NM_004329.3(BMPR1A):c.383A>G (p.Asn128Ser) AND not specified

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Aug 15, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001818388.5

Allele description [Variation Report for NM_004329.3(BMPR1A):c.383A>G (p.Asn128Ser)]

NM_004329.3(BMPR1A):c.383A>G (p.Asn128Ser)

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.383A>G (p.Asn128Ser)

HGVS:

NC_000010.11:g.86899843A>G
NG_009362.1:g.148205A>G
NM_004329.3:c.383A>GMANE SELECT
NP_004320.2:p.Asn128Ser
NP_004320.2:p.Asn128Ser
LRG_298t1:c.383A>G
LRG_298:g.148205A>G
LRG_298p1:p.Asn128Ser
NC_000010.10:g.88659600A>G
NM_004329.2:c.383A>G
p.N128S

Protein change:

N128S

Links:

dbSNP: rs375165807

NCBI 1000 Genomes Browser:

rs375165807

Molecular consequence:

NM_004329.3:c.383A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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undecaprenyl-phosphate glucose phosphotransferase [Vibrio antiquarius]
undecaprenyl-phosphate glucose phosphotransferase [Vibrio antiquarius]
gi|493794114|ref|WP_006742212.1|

Protein
Gomphus cf. floccosus voucher G-010 28S ribosomal RNA gene, partial sequence
Gomphus cf. floccosus voucher G-010 28S ribosomal RNA gene, partial sequence
gi|6959762|gb|AF213130.1|

Nucleotide
FCF1P8 FCF1 pseudogene 8 [Homo sapiens]
FCF1P8 FCF1 pseudogene 8 [Homo sapiens]
Gene ID:100422531

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002070335	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 31, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004027584	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002070335

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 31, 2020)

germline

clinical testing

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

SCV004027584

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 15, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Genetic Services Laboratory, University of Chicago, SCV002070335.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

DNA sequence analysis of the BMPR1A gene demonstrated a sequence change, c.383A>G, in exon 6 that results in an amino acid change, p.Asn128Ser. This sequence change does not appear to have been previously described in patients with BMPR1A-related disorders. This sequence change has been described in the gnomAD database with a low population frequency of 0.003% (dbSNP rs375165807). The p.Asn128Ser change affects a moderately conserved amino acid residue located in the extracellular domain of the BMPR1A protein. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Asn128Ser substitution. Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Asn128Ser change remains unknown at this time.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV004027584.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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