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NM_006633.5(IQGAP2):c.703G>T (p.Val235Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 15, 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:
RCV004631027.1

Allele description [Variation Report for NM_006633.5(IQGAP2):c.703G>T (p.Val235Leu)]

NM_006633.5(IQGAP2):c.703G>T (p.Val235Leu)

Gene:
IQGAP2:IQ motif containing GTPase activating protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q13.3
Genomic location:
Preferred name:
NM_006633.5(IQGAP2):c.703G>T (p.Val235Leu)
HGVS:
  • NC_000005.10:g.76590470G>T
  • NG_053128.1:g.192216G>T
  • NG_053128.2:g.192187G>T
  • NG_173533.1:g.393G>T
  • NM_001285460.2:c.553G>T
  • NM_006633.5:c.703G>TMANE SELECT
  • NP_001272389.2:p.Val185Leu
  • NP_006624.3:p.Val235Leu
  • NC_000005.9:g.75886295G>T
  • NM_006633.2:c.703G>T
Protein change:
V185L
Molecular consequence:
  • NM_001285460.2:c.553G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006633.5:c.703G>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
SCV005129437Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 15, 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, SCV005129437.1

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

Description

The c.703G>T (p.V235L) alteration is located in exon 8 (coding exon 8) of the IQGAP2 gene. This alteration results from a G to T substitution at nucleotide position 703, causing the valine (V) at amino acid position 235 to be replaced by a leucine (L). 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