NM_005585.5(SMAD6):c.1093G>A (p.Gly365Ser) AND Tracheoesophageal fistula

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 1, 2019
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:: RCV001172302.1

Allele description [Variation Report for NM_005585.5(SMAD6):c.1093G>A (p.Gly365Ser)]

NM_005585.5(SMAD6):c.1093G>A (p.Gly365Ser)

Gene:

SMAD6:SMAD family member 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.31

Genomic location:

Preferred name:

NM_005585.5(SMAD6):c.1093G>A (p.Gly365Ser)

HGVS:

NC_000015.10:g.66781137G>A
NG_012244.1:g.83802G>A
NG_012244.2:g.83802G>A
NM_005585.5:c.1093G>AMANE SELECT
NP_005576.3:p.Gly365Ser
NC_000015.9:g.67073475G>A
NM_005585.4:c.1093G>A
NR_027654.2:n.2248G>A

Protein change:

G365S

Links:

dbSNP: rs1176080464

NCBI 1000 Genomes Browser:

rs1176080464

Molecular consequence:

NM_005585.5:c.1093G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_027654.2:n.2248G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Tracheoesophageal fistula
Synonyms:: Esophageal atresia with or without tracheoesophageal fistula
Identifiers:: MONDO: MONDO:0008586; MeSH: D014138; MedGen: C0040588; Orphanet: 1199; OMIM: 189960; Human Phenotype Ontology: HP:0002575

Recent activity

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60S ribosomal protein L14-2 [Cucumis sativus]
60S ribosomal protein L14-2 [Cucumis sativus]
gi|449432536|ref|XP_004134055.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001335255	Shen Lab, Columbia University Medical Center	no assertion criteria provided	Likely pathogenic (Jul 1, 2019)	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001335255

Shen Lab, Columbia University Medical Center

no assertion criteria provided

Likely pathogenic
(Jul 1, 2019)

de novo

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	de novo	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing.

Wang J, Ahimaz PR, Hashemifar S, Khlevner J, Picoraro JA, Middlesworth W, Elfiky MM, Que J, Shen Y, Chung WK.

Eur J Hum Genet. 2021 Jan;29(1):122-130. doi: 10.1038/s41431-020-0680-2. Epub 2020 Jul 8.

PubMed [citation]

PMID:: 32641753
PMCID:: PMC7852873

Details of each submission

From Shen Lab, Columbia University Medical Center, SCV001335255.1

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

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

Last Updated: Aug 29, 2022

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