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NM_000166.6(GJB1):c.830G>A (p.Ser277Asn) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 25, 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:
RCV002424550.2

Allele description [Variation Report for NM_000166.6(GJB1):c.830G>A (p.Ser277Asn)]

NM_000166.6(GJB1):c.830G>A (p.Ser277Asn)

Gene:
GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn)
HGVS:
  • NC_000023.11:g.71224537G>A
  • NG_008357.1:g.14326G>A
  • NM_000166.6:c.830G>AMANE SELECT
  • NM_001097642.3:c.830G>A
  • NP_000157.1:p.Ser277Asn
  • NP_001091111.1:p.Ser277Asn
  • LRG_245t2:c.830G>A
  • LRG_245:g.14326G>A
  • LRG_245p2:p.Ser277Asn
  • NC_000023.10:g.70444387G>A
  • NM_000166.5:c.830G>A
Protein change:
S277N
Links:
dbSNP: rs748095080
NCBI 1000 Genomes Browser:
rs748095080
Molecular consequence:
  • NM_000166.6:c.830G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.830G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002681962Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Mar 25, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002681962.2

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

Description

The p.S277N variant (also known as c.830G>A), located in coding exon 1 of the GJB1 gene, results from a G to A substitution at nucleotide position 830. The serine at codon 277 is replaced by asparagine, an amino acid with highly similar properties. Based on data from the Genome Aggregation Database (gnomAD), the A allele has an overall frequency of approximately 0.004% (6/138854) total alleles studied, including a total of 3 hemizygotes. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024