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NM_000166.6(GJB1):c.442G>A (p.Val148Ile) AND Charcot-Marie-Tooth disease

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 18, 2020
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:
RCV001826374.1

Allele description [Variation Report for NM_000166.6(GJB1):c.442G>A (p.Val148Ile)]

NM_000166.6(GJB1):c.442G>A (p.Val148Ile)

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.442G>A (p.Val148Ile)
HGVS:
  • NC_000023.11:g.71224149G>A
  • NG_008357.1:g.13938G>A
  • NM_000166.6:c.442G>AMANE SELECT
  • NM_001097642.3:c.442G>A
  • NP_000157.1:p.Val148Ile
  • NP_001091111.1:p.Val148Ile
  • LRG_245t2:c.442G>A
  • LRG_245:g.13938G>A
  • LRG_245p2:p.Val148Ile
  • NC_000023.10:g.70443999G>A
Protein change:
V148I
Links:
dbSNP: rs775956201
NCBI 1000 Genomes Browser:
rs775956201
Molecular consequence:
  • NM_000166.6:c.442G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.442G>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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002087244Natera, Inc.
no assertion criteria provided
Benign
(Feb 18, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002087244.1

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

Last Updated: Sep 29, 2024