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NM_014208.3(DSPP):c.211A>T (p.Asn71Tyr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 7, 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:
RCV003479429.1

Allele description [Variation Report for NM_014208.3(DSPP):c.211A>T (p.Asn71Tyr)]

NM_014208.3(DSPP):c.211A>T (p.Asn71Tyr)

Gene:
DSPP:dentin sialophosphoprotein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q22.1
Genomic location:
Preferred name:
NM_014208.3(DSPP):c.211A>T (p.Asn71Tyr)
HGVS:
  • NC_000004.12:g.87612397A>T
  • NG_011595.1:g.8869A>T
  • NM_014208.3:c.211A>TMANE SELECT
  • NP_055023.2:p.Asn71Tyr
  • LRG_1242t1:c.211A>T
  • LRG_1242:g.8869A>T
  • LRG_1242p1:p.Asn71Tyr
  • NC_000004.11:g.88533549A>T
Protein change:
N71Y
Molecular consequence:
  • NM_014208.3:c.211A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004223469Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Nov 7, 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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004223469.1

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

Description

Variant summary: DSPP c.211A>T (p.Asn71Tyr) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 5.2e-05 in 249094 control chromosomes. To our knowledge, no occurrence of c.211A>T in individuals affected with Dentinogenesis Imperfecta Type 2 and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Jan 6, 2024