NM_007209.4(RPL35):c.231G>C (p.Lys77Asn) AND Diamond-Blackfan anemia 19

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 6, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000754834.1

Allele description [Variation Report for NM_007209.4(RPL35):c.231G>C (p.Lys77Asn)]

NM_007209.4(RPL35):c.231G>C (p.Lys77Asn)

Gene:

RPL35:ribosomal protein L35 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.3

Genomic location:

Preferred name:

NM_007209.4(RPL35):c.231G>C (p.Lys77Asn)

HGVS:

NC_000009.12:g.124858059C>G
NM_007209.4:c.231G>CMANE SELECT
NP_009140.1:p.Lys77Asn
NC_000009.11:g.127620338C>G
NM_007209.3:c.231G>C

Protein change:

K77N; LYS77ASN

Links:

OMIM: 618315.0001; dbSNP: rs1564307664

NCBI 1000 Genomes Browser:

rs1564307664

Molecular consequence:

NM_007209.4:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Diamond-Blackfan anemia 19 (DBA19)
Identifiers:: MONDO: MONDO:0032669; MedGen: C5193021; OMIM: 618312

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000882715	OMIM	no assertion criteria provided	Pathogenic (Feb 6, 2019)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000882715

OMIM

no assertion criteria provided

Pathogenic
(Feb 6, 2019)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.

Mirabello L, Khincha PP, Ellis SR, Giri N, Brodie S, Chandrasekharappa SC, Donovan FX, Zhou W, Hicks BD, Boland JF, Yeager M, Jones K, Zhu B, Wang M, Alter BP, Savage SA.

J Med Genet. 2017 Jun;54(6):417-425. doi: 10.1136/jmedgenet-2016-104346. Epub 2017 Mar 9.

PubMed [citation]

PMID:: 28280134

Details of each submission

From OMIM, SCV000882715.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a mother and daughter with Diamond-Blackfan anemia-19 (DBA19; 618312), Mirabello et al. (2017) identified a heterozygous mutation (g.127620338G-C, GRCh37) in the RPL35 gene, resulting in a lys77-to-asn (K77N) substitution. The mutation, which was found by whole-exome sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or ExAC databases. Analysis of pre-rRNA processing in patient cells showed abnormal levels of several pre-rRNA subunits, indicating a defect in pre-rRNA processing. The patients were part of a cohort of 87 families with a similar disorder who underwent genetic analysis; mutations in known DBA-associated genes were excluded in the family.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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