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NM_006516.4(SLC2A1):c.966C>T (p.Val322=) AND Hereditary cryohydrocytosis with reduced stomatin

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 11, 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:
RCV003445506.1

Allele description [Variation Report for NM_006516.4(SLC2A1):c.966C>T (p.Val322=)]

NM_006516.4(SLC2A1):c.966C>T (p.Val322=)

Gene:
SLC2A1:solute carrier family 2 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_006516.4(SLC2A1):c.966C>T (p.Val322=)
Other names:
p.V322V:GTC>GTT
HGVS:
  • NC_000001.11:g.42929216G>A
  • NG_008232.1:g.34961C>T
  • NM_006516.4:c.966C>TMANE SELECT
  • NM_006516.4:c.966C>T
  • NP_006507.2:p.Val322=
  • LRG_1132:g.34961C>T
  • NC_000001.10:g.43394887G>A
  • NM_006516.2:c.966C>T
  • NP_006507.2:p.(=)
Links:
dbSNP: rs2229680
NCBI 1000 Genomes Browser:
rs2229680
Molecular consequence:
  • NM_006516.4:c.966C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary cryohydrocytosis with reduced stomatin
Synonyms:
Stomatin-deficient cryohydrocytosis with neurologic defects; GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS
Identifiers:
MONDO: MONDO:0012143; MedGen: C1837206; Orphanet: 168577; OMIM: 608885

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004172835Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Apr 11, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV004172835.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024