U.S. flag

An official website of the United States government

NM_004963.4(GUCY2C):c.410T>C (p.Leu137Ser) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000416478.1

Allele description [Variation Report for NM_004963.4(GUCY2C):c.410T>C (p.Leu137Ser)]

NM_004963.4(GUCY2C):c.410T>C (p.Leu137Ser)

Genes:
GUCY2C-AS1:GUCY2C antisense RNA 1 [Gene - HGNC]
GUCY2C:guanylate cyclase 2C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p12.3
Genomic location:
Preferred name:
NM_004963.4(GUCY2C):c.410T>C (p.Leu137Ser)
HGVS:
  • NC_000012.12:g.14683243A>G
  • NG_052021.1:g.18343T>C
  • NM_004963.4:c.410T>CMANE SELECT
  • NP_004954.2:p.Leu137Ser
  • NC_000012.11:g.14836177A>G
  • NM_004963.3:c.410T>C
Protein change:
L137S
Links:
dbSNP: rs1057519441
NCBI 1000 Genomes Browser:
rs1057519441
Molecular consequence:
  • NM_004963.4:c.410T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Duodenal atresia
Synonyms:
Duodenal atresia (disease)
Identifiers:
MONDO: MONDO:0009126; MedGen: C0266174; Orphanet: 1203; OMIM: 223400; Human Phenotype Ontology: HP:0002247
Name:
Asplenia
Identifiers:
MedGen: C5779621; Human Phenotype Ontology: HP:0001746
Name:
Reduced number of intrahepatic bile ducts
Identifiers:
MedGen: C4021591; Human Phenotype Ontology: HP:0006571
Name:
Abnormal biliary tract morphology
Identifiers:
MedGen: C4021086; Human Phenotype Ontology: HP:0012440

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000494166Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
no assertion criteria provided
Pathogenicde novoresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000494166.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

This variant was identified in an individual with duodenal atresia, asplenia, absence of gall bladder, paucity of bile ducts.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 8, 2024