NM_013409.3(FST):c.167G>A (p.Cys56Tyr) AND Orofacial cleft

Germline classification:: Likely 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:: RCV001261825.1

Allele description [Variation Report for NM_013409.3(FST):c.167G>A (p.Cys56Tyr)]

NM_013409.3(FST):c.167G>A (p.Cys56Tyr)

Gene:

FST:follistatin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q11.2

Genomic location:

Preferred name:

NM_013409.3(FST):c.167G>A (p.Cys56Tyr)

HGVS:

NC_000005.10:g.53482961G>A
NG_028911.1:g.7528G>A
NM_006350.5:c.167G>A
NM_013409.3:c.167G>AMANE SELECT
NP_006341.1:p.Cys56Tyr
NP_037541.1:p.Cys56Tyr
NC_000005.9:g.52778791G>A
NM_013409.2:c.167G>A

Protein change:

C56Y; CYS56TYR

Links:

OMIM: 136470.0001; dbSNP: rs1747328996

NCBI 1000 Genomes Browser:

rs1747328996

Molecular consequence:

NM_006350.5:c.167G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_013409.3:c.167G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Orofacial cleft
Synonyms:: Orofacial clefting; Oral cleft
Identifiers:: MONDO: MONDO:0000358; MedGen: C3266076; OMIM: PS119530; Human Phenotype Ontology: HP:0000202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001439154	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001439154

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

inherited

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.

Cox TC, Lidral AC, McCoy JC, Liu H, Cox LL, Zhu Y, Anderson RD, Moreno Uribe LM, Anand D, Deng M, Richter CT, Nidey NL, Standley JM, Blue EE, Chong JX, Smith JD, Kirk EP, Venselaar H, Krahn KN, van Bokhoven H, Zhou H, Cornell RA, et al.

Hum Mutat. 2019 Oct;40(10):1813-1825. doi: 10.1002/humu.23793. Epub 2019 Jun 18.

PubMed [citation]

PMID:: 31215115
PMCID:: PMC6764866

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001439154.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 2, 2023

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