NM_000089.4(COL1A2):c.3106G>C (p.Gly1036Arg) AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 21, 2021
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:: RCV003155211.1

Allele description [Variation Report for NM_000089.4(COL1A2):c.3106G>C (p.Gly1036Arg)]

NM_000089.4(COL1A2):c.3106G>C (p.Gly1036Arg)

Gene:

COL1A2:collagen type I alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.3

Genomic location:

Preferred name:

NM_000089.4(COL1A2):c.3106G>C (p.Gly1036Arg)

HGVS:

NC_000007.14:g.94427008G>C
NG_007405.1:g.37448G>C
NM_000089.4:c.3106G>CMANE SELECT
NP_000080.2:p.Gly1036Arg
NP_000080.2:p.Gly1036Arg
LRG_2t1:c.3106G>C
LRG_2:g.37448G>C
LRG_2p1:p.Gly1036Arg
NC_000007.13:g.94056320G>C
NM_000089.3:c.3106G>C

Protein change:

G1036R

Links:

dbSNP: rs72659325

NCBI 1000 Genomes Browser:

rs72659325

Molecular consequence:

NM_000089.4:c.3106G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003844083	Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University	no assertion criteria provided	Pathogenic (Jul 21, 2021)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003844083

Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University

no assertion criteria provided

Pathogenic
(Jul 21, 2021)

germline

research

Help

Summary from all submissions

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

Details of each submission

From Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University, SCV003844083.1

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

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

Last Updated: Nov 20, 2023

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