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NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) AND not specified

Germline classification:
Benign (3 submissions)
Last evaluated:
Sep 11, 2018
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000036234.10

Allele description [Variation Report for NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn)]

NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn)

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn)
HGVS:
  • NC_000011.10:g.77213021G>A
  • NG_009086.2:g.89776G>A
  • NM_000260.4:c.6424G>AMANE SELECT
  • NM_001127180.2:c.6304G>A
  • NM_001369365.1:c.6277G>A
  • NP_000251.3:p.Asp2142Asn
  • NP_001120652.1:p.Asp2102Asn
  • NP_001356294.1:p.Asp2093Asn
  • LRG_1420t1:c.6424G>A
  • LRG_1420:g.89776G>A
  • LRG_1420p1:p.Asp2142Asn
  • NC_000011.9:g.76924066G>A
  • NG_009086.1:g.89757G>A
  • NM_000260.3:c.6424G>A
  • Q13402:p.Asp2142Asn
  • c.6424G>A
Protein change:
D2093N
Links:
UniProtKB: Q13402#VAR_027316; dbSNP: rs1132036
NCBI 1000 Genomes Browser:
rs1132036
Molecular consequence:
  • NM_000260.4:c.6424G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.6304G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.6277G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
40

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000059886Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Benign
(Jun 30, 2009)
germlineclinical testing

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

SCV000729226GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Benign
(May 9, 2017)
germlineclinical testing

Citation Link,

SCV000863021Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)
Benign
(Sep 11, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided4040not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059886.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided40not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided40not provided40not provided

From GeneDx, SCV000729226.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Eurofins Ntd Llc (ga), SCV000863021.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: May 16, 2025