NM_001845.6(COL4A1):c.3032G>A (p.Gly1011Glu) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 12, 2017
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:: RCV000624047.2

Allele description [Variation Report for NM_001845.6(COL4A1):c.3032G>A (p.Gly1011Glu)]

NM_001845.6(COL4A1):c.3032G>A (p.Gly1011Glu)

Gene:

COL4A1:collagen type IV alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q34

Genomic location:

Preferred name:

NM_001845.6(COL4A1):c.3032G>A (p.Gly1011Glu)

HGVS:

NC_000013.11:g.110176450C>T
NG_011544.2:g.135700G>A
NM_001845.6:c.3032G>AMANE SELECT
NP_001836.3:p.Gly1011Glu
LRG_1116t1:c.3032G>A
LRG_1116:g.135700G>A
LRG_1116p1:p.Gly1011Glu
NC_000013.10:g.110828797C>T
NM_001845.4:c.3032G>A

Protein change:

G1011E

Links:

dbSNP: rs1555303010

NCBI 1000 Genomes Browser:

rs1555303010

Molecular consequence:

NM_001845.6:c.3032G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000742401	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (Jul 12, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 9724608, 3691802 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000742401

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Likely pathogenic
(Jul 12, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Gly-X-Y tripeptide frequencies in collagen: a context for host-guest triple-helical peptides.

Ramshaw JA, Shah NK, Brodsky B.

J Struct Biol. 1998;122(1-2):86-91. Review.

PubMed [citation]

PMID:: 9724608

Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen.

Soininen R, Haka-Risku T, Prockop DJ, Tryggvason K.

FEBS Lett. 1987 Dec 10;225(1-2):188-94.

PubMed [citation]

PMID:: 3691802

Details of each submission

From Ambry Genetics, SCV000742401.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Jan 7, 2023

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