U.S. flag

An official website of the United States government

NM_001370658.1(BTD):c.271C>G (p.Pro91Ala) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 26, 2017
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:
RCV000507334.3

Allele description [Variation Report for NM_001370658.1(BTD):c.271C>G (p.Pro91Ala)]

NM_001370658.1(BTD):c.271C>G (p.Pro91Ala)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.271C>G (p.Pro91Ala)
HGVS:
  • NC_000003.12:g.15641929C>G
  • NG_008019.2:g.45578C>G
  • NM_000060.4:c.331C>G
  • NM_001281723.4:c.271C>G
  • NM_001281724.3:c.271C>G
  • NM_001281725.3:c.271C>G
  • NM_001281726.3:c.271C>G
  • NM_001323582.2:c.271C>G
  • NM_001370658.1:c.271C>GMANE SELECT
  • NM_001370752.1:c.271C>G
  • NM_001370753.1:c.271C>G
  • NM_001407364.1:c.271C>G
  • NM_001407365.1:c.271C>G
  • NM_001407366.1:c.271C>G
  • NM_001407367.1:c.271C>G
  • NM_001407368.1:c.271C>G
  • NM_001407369.1:c.271C>G
  • NM_001407370.1:c.271C>G
  • NM_001407371.1:c.271C>G
  • NM_001407372.1:c.271C>G
  • NM_001407373.1:c.271C>G
  • NM_001407374.1:c.271C>G
  • NM_001407375.1:c.271C>G
  • NM_001407376.1:c.271C>G
  • NM_001407377.1:c.271C>G
  • NM_001407378.1:c.271C>G
  • NM_001407379.1:c.271C>G
  • NM_001407380.1:c.271C>G
  • NM_001407381.1:c.334C>G
  • NM_001407382.1:c.271C>G
  • NM_001407383.1:c.271C>G
  • NM_001407384.1:c.271C>G
  • NM_001407386.1:c.271C>G
  • NM_001407388.1:c.271C>G
  • NM_001407390.1:c.271C>G
  • NM_001407392.1:c.271C>G
  • NM_001407394.1:c.271C>G
  • NM_001407395.1:c.271C>G
  • NM_001407396.1:c.271C>G
  • NM_001407397.1:c.271C>G
  • NM_001407398.1:c.271C>G
  • NM_001407399.1:c.271C>G
  • NM_001407400.1:c.271C>G
  • NM_001407401.1:c.271C>G
  • NP_000051.1:p.Pro111Ala
  • NP_001268652.2:p.Pro91Ala
  • NP_001268652.2:p.Pro91Ala
  • NP_001268653.2:p.Pro91Ala
  • NP_001268654.1:p.Pro91Ala
  • NP_001268654.1:p.Pro91Ala
  • NP_001268655.2:p.Pro91Ala
  • NP_001268655.2:p.Pro91Ala
  • NP_001310511.1:p.Pro91Ala
  • NP_001310511.1:p.Pro91Ala
  • NP_001357587.1:p.Pro91Ala
  • NP_001357681.1:p.Pro91Ala
  • NP_001357682.1:p.Pro91Ala
  • NP_001394293.1:p.Pro91Ala
  • NP_001394294.1:p.Pro91Ala
  • NP_001394295.1:p.Pro91Ala
  • NP_001394296.1:p.Pro91Ala
  • NP_001394297.1:p.Pro91Ala
  • NP_001394298.1:p.Pro91Ala
  • NP_001394299.1:p.Pro91Ala
  • NP_001394300.1:p.Pro91Ala
  • NP_001394301.1:p.Pro91Ala
  • NP_001394302.1:p.Pro91Ala
  • NP_001394303.1:p.Pro91Ala
  • NP_001394304.1:p.Pro91Ala
  • NP_001394305.1:p.Pro91Ala
  • NP_001394306.1:p.Pro91Ala
  • NP_001394307.1:p.Pro91Ala
  • NP_001394308.1:p.Pro91Ala
  • NP_001394309.1:p.Pro91Ala
  • NP_001394310.1:p.Pro112Ala
  • NP_001394311.1:p.Pro91Ala
  • NP_001394312.1:p.Pro91Ala
  • NP_001394313.1:p.Pro91Ala
  • NP_001394315.1:p.Pro91Ala
  • NP_001394317.1:p.Pro91Ala
  • NP_001394319.1:p.Pro91Ala
  • NP_001394321.1:p.Pro91Ala
  • NP_001394323.1:p.Pro91Ala
  • NP_001394324.1:p.Pro91Ala
  • NP_001394325.1:p.Pro91Ala
  • NP_001394326.1:p.Pro91Ala
  • NP_001394327.1:p.Pro91Ala
  • NP_001394328.1:p.Pro91Ala
  • NP_001394329.1:p.Pro91Ala
  • NP_001394330.1:p.Pro91Ala
  • NC_000003.11:g.15683436C>G
  • NM_001281723.3:c.271C>G
  • NM_001281725.2:c.271C>G
  • NM_001281726.2:c.271C>G
  • NM_001323582.1:c.271C>G
Protein change:
P112A
Links:
dbSNP: rs1553653070
NCBI 1000 Genomes Browser:
rs1553653070
Molecular consequence:
  • NM_000060.4:c.331C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281723.4:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281726.3:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370752.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370753.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407379.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407380.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407381.1:c.334C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407382.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407383.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407384.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407386.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407388.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407390.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407392.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407394.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407395.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407396.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407397.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407398.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407399.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407400.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407401.1:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On
  • Brachial Plexus Neuritis
    Brachial Plexus Neuritis
    A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and lo...<br/>Year introduced: 2000
    MeSH
  • Range of Motion, Articular
    Range of Motion, Articular
    The distance and direction to which a bone joint can be extended. Range of motion is a function of the condition of the joints, muscles, and connective tissues involved. Joint...<br/>Year introduced: 1991
    MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000600941Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(May 26, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600941.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2024