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NM_001130004.2(ACTN1):c.2605G>A (p.Glu869Lys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 7, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002898210.1

Allele description [Variation Report for NM_001130004.2(ACTN1):c.2605G>A (p.Glu869Lys)]

NM_001130004.2(ACTN1):c.2605G>A (p.Glu869Lys)

Gene:
ACTN1:actinin alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.1
Genomic location:
Preferred name:
NM_001130004.2(ACTN1):c.2605G>A (p.Glu869Lys)
HGVS:
  • NC_000014.9:g.68874999C>T
  • NG_029480.1:g.109368G>A
  • NM_001102.4:c.2539G>A
  • NM_001130004.2:c.2605G>AMANE SELECT
  • NM_001130005.2:c.2524G>A
  • NM_001411035.1:c.2548G>A
  • NM_001411036.1:c.2344G>A
  • NP_001093.1:p.Glu847Lys
  • NP_001123476.1:p.Glu869Lys
  • NP_001123476.1:p.Glu869Lys
  • NP_001123477.1:p.Glu842Lys
  • NP_001397964.1:p.Glu850Lys
  • NP_001397965.1:p.Glu782Lys
  • LRG_886t1:c.2605G>A
  • LRG_886:g.109368G>A
  • LRG_886p1:p.Glu869Lys
  • NC_000014.8:g.69341716C>T
  • NM_001130004.1:c.2605G>A
Protein change:
E782K
Molecular consequence:
  • NM_001102.4:c.2539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130004.2:c.2605G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130005.2:c.2524G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001411035.1:c.2548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001411036.1:c.2344G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003663044Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Nov 7, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV003663044.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.2605G>A (p.E869K) alteration is located in exon 22 (coding exon 22) of the ACTN1 gene. This alteration results from a G to A substitution at nucleotide position 2605, causing the glutamic acid (E) at amino acid position 869 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 13, 2023