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NM_176817.5(TAS2R38):c.649A>C (p.Thr217Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 18, 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:
RCV004289746.1

Allele description [Variation Report for NM_176817.5(TAS2R38):c.649A>C (p.Thr217Pro)]

NM_176817.5(TAS2R38):c.649A>C (p.Thr217Pro)

Gene:
TAS2R38:taste 2 receptor member 38 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_176817.5(TAS2R38):c.649A>C (p.Thr217Pro)
HGVS:
  • NC_000007.14:g.141973041T>G
  • NG_016141.1:g.5733A>C
  • NG_016141.2:g.5732A>C
  • NM_176817.5:c.649A>CMANE SELECT
  • NP_789787.5:p.Thr217Pro
  • NC_000007.13:g.141672841T>G
  • NM_176817.4:c.649A>C
Protein change:
T217P
Molecular consequence:
  • NM_176817.5:c.649A>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
SCV003949404Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 18, 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, SCV003949404.2

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

Description

The c.649A>C (p.T217P) alteration is located in exon 1 (coding exon 1) of the TAS2R38 gene. This alteration results from a A to C substitution at nucleotide position 649, causing the threonine (T) at amino acid position 217 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