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NM_001144832.2(TTC39A):c.32C>T (p.Ala11Val) 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:
RCV004099492.1

Allele description [Variation Report for NM_001144832.2(TTC39A):c.32C>T (p.Ala11Val)]

NM_001144832.2(TTC39A):c.32C>T (p.Ala11Val)

Genes:
LOC129930528:ATAC-STARR-seq lymphoblastoid silent region 876 [Gene]
TTC39A:tetratricopeptide repeat domain 39A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p32.3
Genomic location:
Preferred name:
NM_001144832.2(TTC39A):c.32C>T (p.Ala11Val)
HGVS:
  • NC_000001.11:g.51345012G>A
  • NG_163579.1:g.277G>A
  • NM_001144832.2:c.32C>T
  • NP_001138304.1:p.Ala11Val
  • NC_000001.10:g.51810684G>A
  • NM_001144832.1:c.32C>T
Protein change:
A11V
Molecular consequence:
  • NM_001144832.2:c.32C>T - 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
SCV003570843Ambry 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, SCV003570843.2

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

Description

The c.32C>T (p.A11V) alteration is located in exon 1 (coding exon 1) of the TTC39A gene. This alteration results from a C to T substitution at nucleotide position 32, causing the alanine (A) at amino acid position 11 to be replaced by a valine (V). 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