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NM_002060.3(GJA4):c.248T>C (p.Leu83Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 9, 2021
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:
RCV004105444.1

Allele description [Variation Report for NM_002060.3(GJA4):c.248T>C (p.Leu83Pro)]

NM_002060.3(GJA4):c.248T>C (p.Leu83Pro)

Gene:
GJA4:gap junction protein alpha 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.3
Genomic location:
Preferred name:
NM_002060.3(GJA4):c.248T>C (p.Leu83Pro)
HGVS:
  • NC_000001.11:g.34794461T>C
  • NM_002060.3:c.248T>CMANE SELECT
  • NP_002051.2:p.Leu83Pro
  • NC_000001.10:g.35260062T>C
  • NM_002060.2:c.248T>C
Protein change:
L83P
Molecular consequence:
  • NM_002060.3:c.248T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003566453Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 9, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003566453.2

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

Description

The c.248T>C (p.L83P) alteration is located in exon 2 (coding exon 1) of the GJA4 gene. This alteration results from a T to C substitution at nucleotide position 248, causing the leucine (L) at amino acid position 83 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024