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NM_178556.5(TRIML1):c.1256C>T (p.Ala419Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 17, 2024
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:
RCV004687691.1

Allele description [Variation Report for NM_178556.5(TRIML1):c.1256C>T (p.Ala419Val)]

NM_178556.5(TRIML1):c.1256C>T (p.Ala419Val)

Gene:
TRIML1:tripartite motif family like 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_178556.5(TRIML1):c.1256C>T (p.Ala419Val)
HGVS:
  • NC_000004.12:g.188147221C>T
  • NG_051631.1:g.14033C>T
  • NM_178556.5:c.1256C>TMANE SELECT
  • NP_848651.2:p.Ala419Val
  • NC_000004.11:g.189068375C>T
  • NM_178556.3:c.1256C>T
Protein change:
A419V
Molecular consequence:
  • NM_178556.5:c.1256C>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
SCV005178290Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 17, 2024) 		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, SCV005178290.1

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

Description

The c.1256C>T (p.A419V) alteration is located in exon 6 (coding exon 6) of the TRIML1 gene. This alteration results from a C to T substitution at nucleotide position 1256, causing the alanine (A) at amino acid position 419 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: Aug 11, 2024