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NM_012454.4(TIAM2):c.3721C>G (p.Leu1241Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 28, 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:
RCV004467179.1

Allele description [Variation Report for NM_012454.4(TIAM2):c.3721C>G (p.Leu1241Val)]

NM_012454.4(TIAM2):c.3721C>G (p.Leu1241Val)

Genes:
TIAM2:TIAM Rac1 associated GEF 2 [Gene - OMIM - HGNC]
TFB1M:transcription factor B1, mitochondrial [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q25.3
Genomic location:
Preferred name:
NM_012454.4(TIAM2):c.3721C>G (p.Leu1241Val)
HGVS:
  • NC_000006.12:g.155248068C>G
  • NG_027528.2:g.71430G>C
  • NG_109531.1:g.834C>G
  • NM_001010927.3:c.496C>G
  • NM_001384546.1:c.3721C>G
  • NM_001384547.1:c.3721C>G
  • NM_012454.4:c.3721C>GMANE SELECT
  • NP_001010927.2:p.Leu166Val
  • NP_001371475.1:p.Leu1241Val
  • NP_001371476.1:p.Leu1241Val
  • NP_036586.3:p.Leu1241Val
  • NC_000006.11:g.155569202C>G
  • NM_012454.3:c.3721C>G
Protein change:
L1241V
Molecular consequence:
  • NM_001010927.3:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384546.1:c.3721C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384547.1:c.3721C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012454.4:c.3721C>G - 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
SCV004964983Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 28, 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, SCV004964983.1

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

Description

The c.3721C>G (p.L1241V) alteration is located in exon 19 (coding exon 17) of the TIAM2 gene. This alteration results from a C to G substitution at nucleotide position 3721, causing the leucine (L) at amino acid position 1241 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: May 7, 2024