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NM_002353.3(TACSTD2):c.542G>A (p.Arg181His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 11, 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:
RCV004349184.1

Allele description [Variation Report for NM_002353.3(TACSTD2):c.542G>A (p.Arg181His)]

NM_002353.3(TACSTD2):c.542G>A (p.Arg181His)

Gene:
TACSTD2:tumor associated calcium signal transducer 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p32.1
Genomic location:
Preferred name:
NM_002353.3(TACSTD2):c.542G>A (p.Arg181His)
HGVS:
  • NC_000001.11:g.58576615C>T
  • NG_016237.1:g.5880G>A
  • NG_091239.1:g.696C>T
  • NM_002353.3:c.542G>AMANE SELECT
  • NP_002344.2:p.Arg181His
  • NC_000001.10:g.59042287C>T
  • NM_002353.2:c.542G>A
Protein change:
R181H
Molecular consequence:
  • NM_002353.3:c.542G>A - 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
SCV004063883Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 11, 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, SCV004063883.2

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

Description

The c.542G>A (p.R181H) alteration is located in exon 1 (coding exon 1) of the TACSTD2 gene. This alteration results from a G to A substitution at nucleotide position 542, causing the arginine (R) at amino acid position 181 to be replaced by a histidine (H). 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: Oct 26, 2024