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NM_001290043.2(TAP2):c.1027C>T (p.Arg343Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 17, 2023
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:
RCV003244528.2

Allele description [Variation Report for NM_001290043.2(TAP2):c.1027C>T (p.Arg343Cys)]

NM_001290043.2(TAP2):c.1027C>T (p.Arg343Cys)

Gene:
TAP2:transporter 2, ATP binding cassette subfamily B member [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.32
Genomic location:
Preferred name:
NM_001290043.2(TAP2):c.1027C>T (p.Arg343Cys)
HGVS:
  • NC_000006.12:g.32832743G>A
  • NG_009793.4:g.11028C>T
  • NM_000544.3:c.1027C>T
  • NM_001290043.2:c.1027C>TMANE SELECT
  • NM_018833.3:c.1027C>T
  • NP_000535.3:p.Arg343Cys
  • NP_001276972.1:p.Arg343Cys
  • NP_061313.2:p.Arg343Cys
  • LRG_167t1:c.1027C>T
  • LRG_167t2:c.1027C>T
  • LRG_167:g.11028C>T
  • LRG_167p1:p.Arg343Cys
  • LRG_167p2:p.Arg343Cys
  • NC_000006.11:g.32800520G>A
Protein change:
R343C
Molecular consequence:
  • NM_000544.3:c.1027C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290043.2:c.1027C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018833.3:c.1027C>T - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003939654Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 17, 2023) 		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, SCV003939654.2

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

Description

The c.1027C>T (p.R343C) alteration is located in exon 6 (coding exon 5) of the TAP2 gene. This alteration results from a C to T substitution at nucleotide position 1027, causing the arginine (R) at amino acid position 343 to be replaced by a cysteine (C). 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: May 1, 2024