U.S. flag

An official website of the United States government

NM_001375567.1(FOCAD):c.583C>T (p.Arg195Ter) AND Liver disease, severe congenital

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 16, 2022
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:
RCV002275458.1

Allele description [Variation Report for NM_001375567.1(FOCAD):c.583C>T (p.Arg195Ter)]

NM_001375567.1(FOCAD):c.583C>T (p.Arg195Ter)

Gene:
FOCAD:focadhesin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p21.3
Genomic location:
Preferred name:
NM_001375567.1(FOCAD):c.583C>T (p.Arg195Ter)
HGVS:
  • NC_000009.12:g.20764957C>T
  • NM_001375567.1:c.583C>TMANE SELECT
  • NM_001375568.1:c.583C>T
  • NM_001375570.1:c.478C>T
  • NM_017794.5:c.583C>T
  • NP_001362496.1:p.Arg195Ter
  • NP_001362497.1:p.Arg195Ter
  • NP_001362499.1:p.Arg160Ter
  • NP_060264.4:p.Arg195Ter
  • NC_000009.11:g.20764956C>T
Protein change:
R160*; ARG195TER
Links:
OMIM: 614606.0005; dbSNP: rs200873740
NCBI 1000 Genomes Browser:
rs200873740
Molecular consequence:
  • NM_001375567.1:c.583C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375568.1:c.583C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375570.1:c.478C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017794.5:c.583C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Liver disease, severe congenital (SCOLIV)
Synonyms:
FOCAD DEFICIENCY
Identifiers:
MONDO: MONDO:0859273; MedGen: C5774195; OMIM: 619991

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002562739OMIM
no assertion criteria provided
Pathogenic
(Aug 16, 2022) 		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 FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.

Moreno Traspas R, Teoh TS, Wong PM, Maier M, Chia CY, Lay K, Ali NA, Larson A, Al Mutairi F, Al-Sannaa NA, Faqeih EA, Alfadhel M, Cheema HA, Dupont J, Bézieau S, Isidor B, Low DY, Wang Y, Tan G, Lai PS, Piloquet H, Joubert M, et al.

Nat Genet. 2022 Aug;54(8):1214-1226. doi: 10.1038/s41588-022-01120-0. Epub 2022 Jul 21.

PubMed [citation]
PMID:
35864190
PMCID:
PMC7615854

Details of each submission

From OMIM, SCV002562739.1

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

Description

In 3 sibs, born of consanguineous Saudi parents (family 5), with severe congenital liver disease (SCOLIV; 619991), Moreno Traspas et al. (2022) identified a homozygous c.583C-T transition in exon 8 of the FOCAD gene, resulting in an arg195-to-ter (R195X) substitution in the N terminus. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was found at a low frequency in the heterozygous state in the ExAC (2.5 x 10(-5)) and gnomAD v.2.1.1 databases (1.4 x 10(-5)). Functional studies of the variant and studies of patient cells were not performed.

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

Last Updated: Dec 24, 2023