U.S. flag

An official website of the United States government

NM_001046.3(SLC12A2):c.3566C>T (p.Ala1189Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 27, 2021
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:
RCV002227735.1

Allele description [Variation Report for NM_001046.3(SLC12A2):c.3566C>T (p.Ala1189Val)]

NM_001046.3(SLC12A2):c.3566C>T (p.Ala1189Val)

Gene:
SLC12A2:solute carrier family 12 member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q23.3
Genomic location:
Preferred name:
NM_001046.3(SLC12A2):c.3566C>T (p.Ala1189Val)
HGVS:
  • NC_000005.10:g.128186558C>T
  • NG_042286.1:g.107768C>T
  • NM_001046.3:c.3566C>TMANE SELECT
  • NM_001256461.2:c.3518C>T
  • NP_001037.1:p.Ala1189Val
  • NP_001243390.1:p.Ala1173Val
  • NC_000005.9:g.127522250C>T
  • NR_046207.2:n.3821C>T
Protein change:
A1173V
Links:
dbSNP: rs768256710
NCBI 1000 Genomes Browser:
rs768256710
Molecular consequence:
  • NM_001046.3:c.3566C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256461.2:c.3518C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046207.2:n.3821C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Kilquist syndrome (KILQS)
Identifiers:
MONDO: MONDO:0033664; MedGen: C5436756; OMIM: 619080
Name:
Delpire-McNeill syndrome
Identifiers:
MONDO: MONDO:0033667; MedGen: C5436771; OMIM: 619083

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002506835New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(May 27, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002506835.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024