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NM_003841.5(TNFRSF10C):c.110A>C (p.Gln37Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 1, 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:
RCV004109077.1

Allele description [Variation Report for NM_003841.5(TNFRSF10C):c.110A>C (p.Gln37Pro)]

NM_003841.5(TNFRSF10C):c.110A>C (p.Gln37Pro)

Gene:
TNFRSF10C:TNF receptor superfamily member 10c [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p21.3
Genomic location:
Preferred name:
NM_003841.5(TNFRSF10C):c.110A>C (p.Gln37Pro)
HGVS:
  • NC_000008.11:g.23111769A>C
  • NG_032578.1:g.13956A>C
  • NG_032578.2:g.13850A>C
  • NM_003841.5:c.110A>CMANE SELECT
  • NP_003832.3:p.Gln37Pro
  • NC_000008.10:g.22969282A>C
  • NM_003841.3:c.110A>C
Protein change:
Q37P
Molecular consequence:
  • NM_003841.5:c.110A>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
SCV003578256Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 1, 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, SCV003578256.2

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

Description

The c.110A>C (p.Q37P) alteration is located in exon 2 (coding exon 2) of the TNFRSF10C gene. This alteration results from a A to C substitution at nucleotide position 110, causing the glutamine (Q) at amino acid position 37 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 10, 2024