U.S. flag

An official website of the United States government

NM_001080394.4(SPIDR):c.814C>T (p.Arg272Ter) AND Ovarian dysgenesis 9

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 16, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001795889.3

Allele description [Variation Report for NM_001080394.4(SPIDR):c.814C>T (p.Arg272Ter)]

NM_001080394.4(SPIDR):c.814C>T (p.Arg272Ter)

Gene:
SPIDR:scaffold protein involved in DNA repair [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q11.21
Genomic location:
Preferred name:
NM_001080394.4(SPIDR):c.814C>T (p.Arg272Ter)
Other names:
R272*
HGVS:
  • NC_000008.11:g.47407898C>T
  • NM_001080394.4:c.814C>TMANE SELECT
  • NM_001282916.1:c.604C>T
  • NM_001282919.1:c.634C>T
  • NM_001352931.1:c.814C>T
  • NM_001352932.1:c.694C>T
  • NM_001352933.1:c.634C>T
  • NM_001352934.1:c.814C>T
  • NM_001352935.1:c.604C>T
  • NM_001352936.1:c.604C>T
  • NM_001352937.1:c.634C>T
  • NM_001352938.1:c.322C>T
  • NM_001352939.1:c.322C>T
  • NM_001352940.1:c.322C>T
  • NM_001352941.1:c.362-32425C>T
  • NM_001352942.1:c.157C>T
  • NM_001352943.1:c.322C>T
  • NM_001352944.1:c.362-32425C>T
  • NM_001352945.1:c.152-32425C>T
  • NM_001352946.1:c.64C>T
  • NM_001352947.1:c.64C>T
  • NM_001352948.1:c.64C>T
  • NM_001352949.1:c.157C>T
  • NM_001352950.1:c.322C>T
  • NM_001352951.1:c.64C>T
  • NM_001352952.1:c.-120C>T
  • NM_001352953.1:c.-56-32425C>T
  • NM_001352955.1:c.-56-32425C>T
  • NM_001352956.1:c.-120C>T
  • NM_001352957.1:c.-56-32425C>T
  • NM_001352958.1:c.-470C>T
  • NM_001352961.1:c.814C>T
  • NP_001073863.1:p.Arg272Ter
  • NP_001269845.1:p.Arg202Ter
  • NP_001269848.1:p.Arg212Ter
  • NP_001339860.1:p.Arg272Ter
  • NP_001339861.1:p.Arg232Ter
  • NP_001339862.1:p.Arg212Ter
  • NP_001339863.1:p.Arg272Ter
  • NP_001339864.1:p.Arg202Ter
  • NP_001339865.1:p.Arg202Ter
  • NP_001339866.1:p.Arg212Ter
  • NP_001339867.1:p.Arg108Ter
  • NP_001339868.1:p.Arg108Ter
  • NP_001339869.1:p.Arg108Ter
  • NP_001339871.1:p.Arg53Ter
  • NP_001339872.1:p.Arg108Ter
  • NP_001339875.1:p.Arg22Ter
  • NP_001339876.1:p.Arg22Ter
  • NP_001339877.1:p.Arg22Ter
  • NP_001339878.1:p.Arg53Ter
  • NP_001339879.1:p.Arg108Ter
  • NP_001339880.1:p.Arg22Ter
  • NP_001339890.1:p.Arg272Ter
  • NC_000008.10:g.48320460C>T
  • NR_148202.1:n.895C>T
  • NR_148203.1:n.858C>T
  • NR_148204.1:n.895C>T
  • NR_148205.1:n.895C>T
Protein change:
R108*; ARG272TER
Links:
OMIM: 615384.0002; dbSNP: rs782042817
NCBI 1000 Genomes Browser:
rs782042817
Molecular consequence:
  • NM_001352952.1:c.-120C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001352956.1:c.-120C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001352958.1:c.-470C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001352941.1:c.362-32425C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352944.1:c.362-32425C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352945.1:c.152-32425C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352953.1:c.-56-32425C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352955.1:c.-56-32425C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352957.1:c.-56-32425C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_148202.1:n.895C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148203.1:n.858C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148204.1:n.895C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148205.1:n.895C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001080394.4:c.814C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282916.1:c.604C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282919.1:c.634C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352931.1:c.814C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352932.1:c.694C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352933.1:c.634C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352934.1:c.814C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352935.1:c.604C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352936.1:c.604C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352937.1:c.634C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352938.1:c.322C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352939.1:c.322C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352940.1:c.322C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352942.1:c.157C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352943.1:c.322C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352946.1:c.64C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352947.1:c.64C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352948.1:c.64C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352949.1:c.157C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352950.1:c.322C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352951.1:c.64C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352961.1:c.814C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Ovarian dysgenesis 9
Identifiers:
MONDO: MONDO:0030506; MedGen: C5562046; OMIM: 619665

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002037214OMIM
no assertion criteria provided
Pathogenic
(Feb 16, 2022) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability.

Heddar A, Guichoux N, Auger N, Misrahi M.

Clin Genet. 2022 Feb;101(2):242-246. doi: 10.1111/cge.14080. Epub 2021 Nov 9.

PubMed [citation]
PMID:
34697795

Details of each submission

From OMIM, SCV002037214.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 16-year-old Indian girl with ovarian dysgenesis (ODG9; 619665), Heddar et al. (2022) identified homozygosity for a c.814C-T transition (c.814C-T, NM_001080394) in exon 7 of the SPIDR gene, resulting in an arg272-to-ter (R272X) substitution. Her consanguineous parents were heterozygous for the mutation, which was present at low minor allele frequency in the gnomAD and Kaviar databases (3.68 x 10(-5) and 3.22 x 10(-5), respectively), only in heterozygous state. Patient cells demonstrated a marked increase in mitomycin-induced chromosomal breaks compared to wildtype cells.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023