NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) AND not specified

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Oct 31, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000150349.9

Allele description [Variation Report for NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln)]

NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln)

Gene:

COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

Preferred name:

NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln)

HGVS:

NC_000006.12:g.33167508G>T
NG_011589.1:g.29961C>A
NM_080679.3:c.3719C>A
NM_080680.3:c.4040C>AMANE SELECT
NM_080681.3:c.3782C>A
NP_542410.2:p.Pro1240Gln
NP_542411.2:p.Pro1347Gln
NP_542411.2:p.Pro1347Gln
NP_542412.2:p.Pro1261Gln
NC_000006.11:g.33135285G>T
NM_080680.2:c.4040C>A

Protein change:

P1240Q

Links:

dbSNP: rs142890313

NCBI 1000 Genomes Browser:

rs142890313

Molecular consequence:

NM_080679.3:c.3719C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_080680.3:c.4040C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_080681.3:c.3782C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000197459	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Oct 31, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000704981	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely benign (Aug 10, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000197459

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Oct 31, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000704981

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely benign
(Aug 10, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	2	2	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000197459.4

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

Description

The p.Pro1347Gln variant in COL11A2 is classified as likely benign because it ha s been identified in 0.3% (74/22572) of African chromosomes including 2 homozygo tes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org ). ACMG/AMP Criteria applied: BS1.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		2	not provided	2	not provided

From Eurofins Ntd Llc (ga), SCV000704981.3

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

#	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		2	not provided	not provided	not provided

Last Updated: May 16, 2025

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