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NM_031965.2(HASPIN):c.1801A>G (p.Ile601Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 28, 2023
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:
RCV004273967.1

Allele description [Variation Report for NM_031965.2(HASPIN):c.1801A>G (p.Ile601Val)]

NM_031965.2(HASPIN):c.1801A>G (p.Ile601Val)

Genes:
HASPIN:histone H3 associated protein kinase [Gene - OMIM - HGNC]
ITGAE:integrin subunit alpha E [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_031965.2(HASPIN):c.1801A>G (p.Ile601Val)
HGVS:
  • NC_000017.11:g.3725736A>G
  • NM_002208.5:c.3085-1992T>CMANE SELECT
  • NM_031965.2:c.1801A>GMANE SELECT
  • NP_114171.2:p.Ile601Val
  • NC_000017.10:g.3629030A>G
Protein change:
I601V
Molecular consequence:
  • NM_002208.5:c.3085-1992T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_031965.2:c.1801A>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
SCV003908311Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 28, 2023) 		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, SCV003908311.2

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

Description

The c.1801A>G (p.I601V) alteration is located in exon 1 (coding exon 1) of the GSG2 gene. This alteration results from a A to G substitution at nucleotide position 1801, causing the isoleucine (I) at amino acid position 601 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