NM_001854.4(COL11A1):c.4131del (p.Gly1378fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 27, 2020
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:: RCV001780522.4

Allele description [Variation Report for NM_001854.4(COL11A1):c.4131del (p.Gly1378fs)]

NM_001854.4(COL11A1):c.4131del (p.Gly1378fs)

Gene:

COL11A1:collagen type XI alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p21.1

Genomic location:

Preferred name:

NM_001854.4(COL11A1):c.4131del (p.Gly1378fs)

HGVS:

NC_000001.11:g.102898954del
NG_008033.2:g.214547del
NM_001190709.2:c.4014del
NM_001854.4:c.4131delMANE SELECT
NM_080629.3:c.4167del
NM_080630.4:c.3783del
NP_001177638.1:p.Gly1339fs
NP_001845.3:p.Gly1378fs
NP_542196.2:p.Gly1390fs
NP_542197.3:p.Gly1262fs
NC_000001.10:g.103364510del
NM_001854.3:c.4131del
NR_134980.2:n.4491del

Protein change:

G1262fs

Links:

dbSNP: rs2100925460

NCBI 1000 Genomes Browser:

rs2100925460

Molecular consequence:

NM_001190709.2:c.4014del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001854.4:c.4131del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_080629.3:c.4167del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_080630.4:c.3783del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_134980.2:n.4491del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002017408	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 27, 2020)	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

SCV002017408

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 27, 2020)

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV002017408.3

#	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 16, 2024

ClinVar

Relating variation to medicine