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NM_002819.5(PTBP1):c.2T>C (p.Met1Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 8, 2019
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:
RCV001028100.1

Allele description [Variation Report for NM_002819.5(PTBP1):c.2T>C (p.Met1Thr)]

NM_002819.5(PTBP1):c.2T>C (p.Met1Thr)

Gene:
PTBP1:polypyrimidine tract binding protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_002819.5(PTBP1):c.2T>C (p.Met1Thr)
HGVS:
  • NC_000019.10:g.797499T>C
  • NM_002819.5:c.2T>CMANE SELECT
  • NM_031990.4:c.2T>C
  • NM_031991.4:c.2T>C
  • NP_002810.1:p.Met1Thr
  • NP_114367.1:p.Met1Thr
  • NP_114368.1:p.Met1Thr
  • NC_000019.9:g.797499T>C
  • NM_002819.4:c.2T>C
Protein change:
M1T
Links:
dbSNP: rs1599210325
NCBI 1000 Genomes Browser:
rs1599210325
Molecular consequence:
  • NM_002819.5:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_031990.4:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_031991.4:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_002819.5:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031990.4:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031991.4:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001190884HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI WGS
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 8, 2019) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI WGS, SCV001190884.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 3, 2023