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NM_080680.3(COL11A2):c.4951G>T (p.Val1651Phe) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 22, 2023
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:
RCV003348556.2

Allele description [Variation Report for NM_080680.3(COL11A2):c.4951G>T (p.Val1651Phe)]

NM_080680.3(COL11A2):c.4951G>T (p.Val1651Phe)

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.4951G>T (p.Val1651Phe)
HGVS:
  • NC_000006.12:g.33164386C>A
  • NG_011589.1:g.33083G>T
  • NM_080679.3:c.4630G>T
  • NM_080680.2:c.4951G>T
  • NM_080680.3:c.4951G>TMANE SELECT
  • NM_080681.3:c.4693G>T
  • NP_542410.2:p.Val1544Phe
  • NP_542411.2:p.Val1651Phe
  • NP_542412.2:p.Val1565Phe
  • NC_000006.11:g.33132163C>A
Protein change:
V1544F
Links:
dbSNP: rs766589324
NCBI 1000 Genomes Browser:
rs766589324
Molecular consequence:
  • NM_080679.3:c.4630G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080680.3:c.4951G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080681.3:c.4693G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004061216Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 22, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004061216.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.4951G>T (p.V1651F) alteration is located in exon 65 (coding exon 65) of the COL11A2 gene. This alteration results from a G to T substitution at nucleotide position 4951, causing the valine (V) at amino acid position 1651 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024