NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser) AND Achondrogenesis type II

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 30, 2019
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:: RCV001198649.2

Allele description [Variation Report for NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser)]

NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser)

Gene:

COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.11

Genomic location:

Preferred name:

NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser)

HGVS:

NC_000012.12:g.47977626C>T
NG_008072.1:g.31877G>A
NM_001844.5:c.3139G>AMANE SELECT
NM_033150.3:c.2932G>A
NP_001835.3:p.Gly1047Ser
NP_149162.2:p.Gly978Ser
NC_000012.11:g.48371409C>T
NM_001844.4:c.3139G>A

Protein change:

G1047S

Links:

dbSNP: rs1555165245

NCBI 1000 Genomes Browser:

rs1555165245

Molecular consequence:

NM_001844.5:c.3139G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033150.3:c.2932G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Achondrogenesis type II (ACG2)
Synonyms:: Achondrogenesis, Langer-Saldino type; Chondrogenesis imperfecta
Identifiers:: MONDO: MONDO:0008702; MedGen: C0220685; Orphanet: 932; OMIM: 200610

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
SCV001369643	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 30, 2019)	unknown	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

SCV001369643

Centre for Mendelian Genomics, University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 30, 2019)

unknown

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	unknown	yes	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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV001369643.2

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

Description

This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PP3,PP4,PP5.

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

Last Updated: Mar 4, 2023

ClinVar

Relating variation to medicine