NM_000166.6(GJB1):c.830G>A (p.Ser277Asn) AND Charcot-Marie-Tooth disease

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 28, 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:: RCV001271692.1

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:: Charcot-Marie-Tooth disease
Synonyms:: Charcot-Marie-Tooth Neuropathy
Identifiers:: MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

Recent activity

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Rattus norvegicus spermatid perinuclear RNA binding protein (Strbp), transcript ...
Rattus norvegicus spermatid perinuclear RNA binding protein (Strbp), transcript variant 3, mRNA
gi|2719984937|ref|NM_001429553.1|

Nucleotide
Apogoninae 12S ribosomal RNA gene, partial sequence; tRNA-Val gene, complete seq...
Apogoninae 12S ribosomal RNA gene, partial sequence; tRNA-Val gene, complete sequence; and 16S ribosomal RNA gene, partial sequence; mitochondrial.
PopSet: 2021361566

PopSet
Clupeocephala cytochrome c oxidase subunit I gene, partial cds; mitochondrial.
Clupeocephala cytochrome c oxidase subunit I gene, partial cds; mitochondrial.
PopSet: 2047394660

PopSet
interleukin-6 receptor subunit alpha isoform 2 precursor [Homo sapiens]
interleukin-6 receptor subunit alpha isoform 2 precursor [Homo sapiens]
gi|31317249|ref|NP_852004.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001453017	Natera, Inc.	no assertion criteria provided	Likely benign (Oct 28, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001453017

Natera, Inc.

no assertion criteria provided

Likely benign
(Oct 28, 2019)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV001453017.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Sep 29, 2024

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