NM_004329.3(BMPR1A):c.676-5T>C AND not specified

Clinical significance:Likely benign

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000582818.2

Allele description [Variation Report for NM_004329.3(BMPR1A):c.676-5T>C]

NM_004329.3(BMPR1A):c.676-5T>C

Gene:
BMPR1A:bone morphogenetic protein receptor type 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.2
Genomic location:
Preferred name:
NM_004329.3(BMPR1A):c.676-5T>C
HGVS:
  • NC_000010.11:g.86917129T>C
  • NG_009362.1:g.165491T>C
  • NM_004329.3:c.676-5T>CMANE SELECT
  • LRG_298t1:c.676-5T>C
  • LRG_298:g.165491T>C
  • NC_000010.10:g.88676886T>C
  • NM_004329.2:c.676-5T>C
Links:
dbSNP: rs200537780
NCBI 1000 Genomes Browser:
rs200537780
Molecular consequence:
  • NM_004329.3:c.676-5T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000691801Mayo Clinic Laboratories,Mayo Clinicno assertion criteria providedLikely benignunknownclinical testing

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories,Mayo Clinic, SCV000691801.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 2, 2021

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