VCV002680204.1 - ClinVar

NM_004329.3(BMPR1A):c.702del (p.Gln235fs)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(1)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Likely pathogenic

criteria provided, single submitter

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_004329.3(BMPR1A):c.702del (p.Gln235fs)

Variation ID: 2680204 Accession: VCV002680204.1

Type and length

Deletion, 1 bp

Location

Cytogenetic: 10q23.2 10: 86917159 (GRCh38) [ NCBI UCSC ] 10: 88676916 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Dec 30, 2023	Dec 30, 2023	Feb 23, 2023

HGVS

Nucleotide	Protein	Molecular consequence
NM_004329.3:c.702del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_004320.2:p.Gln235fs	frameshift
NM_001406559.1:c.777del	NP_001393488.1:p.Gln260fs	frameshift
NM_001406560.1:c.750del	NP_001393489.1:p.Gln251fs	frameshift
NM_001406561.1:c.702del	NP_001393490.1:p.Gln235fs	frameshift
NM_001406562.1:c.702del	NP_001393491.1:p.Gln235fs	frameshift
NM_001406563.1:c.702del	NP_001393492.1:p.Gln235fs	frameshift
NM_001406564.1:c.702del	NP_001393493.1:p.Gln235fs	frameshift
NM_001406565.1:c.702del	NP_001393494.1:p.Gln235fs	frameshift
NM_001406566.1:c.702del	NP_001393495.1:p.Gln235fs	frameshift
NM_001406567.1:c.702del	NP_001393496.1:p.Gln235fs	frameshift
NM_001406568.1:c.702del	NP_001393497.1:p.Gln235fs	frameshift
NM_001406569.1:c.702del	NP_001393498.1:p.Gln235fs	frameshift
NM_001406570.1:c.702del	NP_001393499.1:p.Gln235fs	frameshift
NM_001406571.1:c.702del	NP_001393500.1:p.Gln235fs	frameshift
NM_001406572.1:c.702del	NP_001393501.1:p.Gln235fs	frameshift
NM_001406573.1:c.702del	NP_001393502.1:p.Gln235fs	frameshift
NM_001406574.1:c.702del	NP_001393503.1:p.Gln235fs	frameshift
NM_001406575.1:c.702del	NP_001393504.1:p.Gln235fs	frameshift
NM_001406576.1:c.702del	NP_001393505.1:p.Gln235fs	frameshift
NM_001406577.1:c.702del	NP_001393506.1:p.Gln235fs	frameshift
NM_001406578.1:c.702del	NP_001393507.1:p.Gln235fs	frameshift
NM_001406579.1:c.702del	NP_001393508.1:p.Gln235fs	frameshift
NM_001406580.1:c.702del	NP_001393509.1:p.Gln235fs	frameshift
NM_001406581.1:c.702del	NP_001393510.1:p.Gln235fs	frameshift
NM_001406582.1:c.702del	NP_001393511.1:p.Gln235fs	frameshift
NM_001406583.1:c.696del	NP_001393512.1:p.Gln233fs	frameshift
NM_001406584.1:c.618del	NP_001393513.1:p.Gln207fs	frameshift
NM_001406585.1:c.618del	NP_001393514.1:p.Gln207fs	frameshift
NM_001406586.1:c.618del	NP_001393515.1:p.Gln207fs	frameshift
NM_001406587.1:c.618del	NP_001393516.1:p.Gln207fs	frameshift
NM_001406588.1:c.618del	NP_001393517.1:p.Gln207fs	frameshift
NM_001406589.1:c.360del	NP_001393518.1:p.Gln121fs	frameshift
NR_176211.1:n.1270del		non-coding transcript variant
NR_176212.1:n.1270del		non-coding transcript variant
NR_176213.1:n.1270del		non-coding transcript variant
NC_000010.11:g.86917160del
NC_000010.10:g.88676917del
NG_009362.1:g.165522del
LRG_298:g.165522del
LRG_298t1:c.702del	LRG_298p1:p.Gln235Argfs

... more HGVS ... less HGVS

Protein change

Q121fs, Q207fs, Q233fs, Q235fs, Q251fs, Q260fs

Other names

Canonical SPDI

NC_000010.11:86917158:TT:T

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
BMPR1A		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	2329	2425

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Polyposis syndrome, hereditary mixed, 2	Likely pathogenic (1)	criteria provided, single submitter	Feb 23, 2023	RCV003474396.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Polyposis syndrome, hereditary mixed, 2 Affected status: unknown Allele origin: unknown	Baylor Genetics Accession: SCV004212660.1 First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for this variant ...

Record last updated Dec 30, 2023

ClinVar Genomic variation as it relates to human health

NM_004329.3(BMPR1A):c.702del (p.Gln235fs)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...