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NM_006633.5(IQGAP2):c.2237A>G (p.Tyr746Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 23, 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:
RCV004631028.1

Allele description [Variation Report for NM_006633.5(IQGAP2):c.2237A>G (p.Tyr746Cys)]

NM_006633.5(IQGAP2):c.2237A>G (p.Tyr746Cys)

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.2237A>G (p.Tyr746Cys)
HGVS:
  • NC_000005.10:g.76654258A>G
  • NG_053128.1:g.256004A>G
  • NG_053128.2:g.255975A>G
  • NM_001285460.2:c.2087A>G
  • NM_001285461.2:c.725A>G
  • NM_001285462.2:c.725A>G
  • NM_006633.5:c.2237A>GMANE SELECT
  • NP_001272389.2:p.Tyr696Cys
  • NP_001272390.2:p.Tyr242Cys
  • NP_001272391.2:p.Tyr242Cys
  • NP_006624.3:p.Tyr746Cys
  • NC_000005.9:g.75950083A>G
  • NM_006633.2:c.2237A>G
Protein change:
Y242C
Molecular consequence:
  • NM_001285460.2:c.2087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001285461.2:c.725A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001285462.2:c.725A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006633.5:c.2237A>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
SCV005129438Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 23, 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, SCV005129438.1

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

Description

The c.2237A>G (p.Y746C) alteration is located in exon 19 (coding exon 19) of the IQGAP2 gene. This alteration results from a A to G substitution at nucleotide position 2237, causing the tyrosine (Y) at amino acid position 746 to be replaced by a cysteine (C). 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