VCV000523641.2 - ClinVar

NM_020485.8(RHCE):c.963del (p.Ile322fs)

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.

Pathogenic

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_020485.8(RHCE):c.963del (p.Ile322fs)

Variation ID: 523641 Accession: VCV000523641.2

Type and length

Deletion, 1 bp

Location

Cytogenetic: 1p36.11 1: 25385821 (GRCh38) [ NCBI UCSC ] 1: 25712312 (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	May 18, 2018	May 18, 2018	May 15, 2018

HGVS

Nucleotide	Protein	Molecular consequence
NM_020485.8:c.963del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_065231.4:p.Ile322fs	frameshift
NM_001330430.4:c.963del	NP_001317359.1:p.Ile322fs	frameshift
NM_138616.5:c.510del	NP_619522.3:p.Ile171fs	frameshift
NM_138617.5:c.648del	NP_619523.3:p.Ile217fs	frameshift
NM_138618.6:c.939+3155del		intron variant
NC_000001.11:g.25385824del
NC_000001.10:g.25712315del
NG_009208.3:g.49372del
LRG_797:g.49372del
LRG_797t1:c.960del	LRG_797p1:p.Ile322Phefs

... more HGVS ... less HGVS

Protein change

I171fs, I217fs, I322fs

Other names

Canonical SPDI

NC_000001.11:25385820:CCCC:CCC

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

OMIM: 111700.0005 VarSome

Comment on variant

NCBI staff provided HGVS expressions for allelic variant 111700.0005 from the sequence reported in Figure 1 of the paper by Rosa et al., 2005 (PubMed 16271106).

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.
RHCE		-	-	GRCh38 GRCh37	41	57

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.
RH-NULL, AMORPH TYPE	Pathogenic (1)	no assertion criteria provided	May 15, 2018	RCV000627070.2

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.
Pathogenic (May 15, 2018)	no assertion criteria provided Method: literature only	RH-NULL, AMORPH TYPE Affected status: not provided Allele origin: germline	OMIM Accession: SCV000747881.1 First in ClinVar: May 18, 2018 Last updated: May 18, 2018	Publications: PubMed (1) PubMed: 16271106 Comment on evidence: In a 23-year-old Caucasian Brazilian woman and her sister with Rh-null amorph phenotype (RHNA; 617970), Rosa et al. (2005) detected homozygosity for deletion of a … (more) In a 23-year-old Caucasian Brazilian woman and her sister with Rh-null amorph phenotype (RHNA; 617970), Rosa et al. (2005) detected homozygosity for deletion of a single G nucleotide within the quadruple GGGG between nucleotide positions 960 and 963 in exon 7 of the RHCE gene. This deletion introduced a frameshift after gly231 and a premature stop codon at position 358. The consanguineous parents and a brother were heterozygous for the mutation. PCR demonstrated absence of the RHD gene (111680) in both sisters. (less)

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

Title	Author	Journal	Year	Link
Rhnull syndrome: identification of a novel mutation in RHce.	Rosa KA	Transfusion	2005	PMID: 16271106

Text-mined citations for this variant ...

Record last updated Nov 19, 2022

ClinVar Genomic variation as it relates to human health

NM_020485.8(RHCE):c.963del (p.Ile322fs)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...