NM_001492.6(GDF1):c.456GGC[6] (p.Ala158dup) AND Visceral heterotaxy

Germline classification:: Benign (1 submission)
Last evaluated:: Mar 11, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000200398.4

Allele description [Variation Report for NM_001492.6(GDF1):c.456GGC[6] (p.Ala158dup)]

NM_001492.6(GDF1):c.456GGC[6] (p.Ala158dup)

Genes:

CERS1:ceramide synthase 1 [Gene - OMIM - HGNC]
GDF1:growth differentiation factor 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

19p13.11

Genomic location:

Preferred name:

NM_001492.6(GDF1):c.456GGC[6] (p.Ala158dup)

HGVS:

NC_000019.10:g.18869248CGC[6]
NG_012070.1:g.31885GGC[6]
NG_033056.1:g.31885GGC[6]
NM_001387438.1:c.456GGC[6]
NM_001387440.1:c.*1317GGC[6]
NM_001492.6:c.456GGC[6]MANE SELECT
NM_021267.5:c.*725GGC[6]MANE SELECT
NP_001374367.1:p.Ala158dup
NP_001483.3:p.Ala158dup
NC_000019.9:g.18980054_18980055insGCC
NC_000019.9:g.18980057CGC[6]
NM_001492.4:c.468_470dup
NM_001492.4:c.468_470dupGGC
NM_001492.5:c.468_470dupGGC
NM_021267.4:c.*737_*739dup

Links:

dbSNP: rs571387097

NCBI 1000 Genomes Browser:

rs571387097

Molecular consequence:

NM_001387440.1:c.*1317GGC[6] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_021267.5:c.*725GGC[6] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001387438.1:c.456GGC[6] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001492.6:c.456GGC[6] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Visceral heterotaxy
Synonyms:: Heterotaxy syndrome; Heterotaxia
Identifiers:: MONDO: MONDO:0018677; MedGen: C3178805; Orphanet: 450; OMIM: PS306955

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000252765	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Mar 11, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000252765

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Mar 11, 2016)

germline

clinical testing

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000252765.4

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

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

Last Updated: Mar 10, 2024

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