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NM_032545.4(CFC1):c.334C>T (p.Arg112Cys) AND Heterotaxy, visceral, 2, autosomal

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2000
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:
RCV000005496.3

Allele description [Variation Report for NM_032545.4(CFC1):c.334C>T (p.Arg112Cys)]

NM_032545.4(CFC1):c.334C>T (p.Arg112Cys)

Gene:
CFC1:cripto, FRL-1, cryptic family 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q21.1
Genomic location:
Preferred name:
NM_032545.4(CFC1):c.334C>T (p.Arg112Cys)
HGVS:
  • NC_000002.12:g.130597896G>A
  • NG_008148.1:g.6614C>T
  • NM_001270420.2:c.248-293C>T
  • NM_001270421.2:c.247+746C>T
  • NM_032545.4:c.334C>TMANE SELECT
  • NP_115934.1:p.Arg112Cys
  • NC_000002.11:g.131355469G>A
  • P0CG37:p.Arg112Cys
Protein change:
R112C; ARG112CYS
Links:
UniProtKB: P0CG37#VAR_024323; OMIM: 605194.0001; dbSNP: rs104893611
NCBI 1000 Genomes Browser:
rs104893611
Molecular consequence:
  • NM_001270420.2:c.248-293C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001270421.2:c.247+746C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_032545.4:c.334C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Heterotaxy, visceral, 2, autosomal (HTX2)
Synonyms:
Transposition of the great arteries, dextro-looped 2
Identifiers:
MONDO: MONDO:0011546; MedGen: C1415817; Orphanet: 450; OMIM: 605376

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000025678OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 2000) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.

Bamford RN, Roessler E, Burdine RD, Saplakoğlu U, dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B.

Nat Genet. 2000 Nov;26(3):365-9. Erratum in: Nat Genet 2000 Dec;26(4):501.

PubMed [citation]
PMID:
11062482

Details of each submission

From OMIM, SCV000025678.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with autosomal visceral heterotaxy-2 (HTX2; 605376), Bamford et al. (2000) found a heterozygous 334C-T transition in exon 4 of the CFC1 gene, resulting in an arg112-to-cys (R112C) substitution at a highly conserved residue in the EGF domain. The variant was inherited from a phenotypically normal parent, suggesting incomplete penetrance. The patient had complex cardiac anomalies, right-sided stomach, and intestinal malrotation. There was absent corpus callosum and myelocele.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022