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NM_001387025.1(GRAMD1B):c.811C>T (p.Arg271Ter) AND Intellectual disability

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001291084.2

Allele description [Variation Report for NM_001387025.1(GRAMD1B):c.811C>T (p.Arg271Ter)]

NM_001387025.1(GRAMD1B):c.811C>T (p.Arg271Ter)

Gene:
GRAMD1B:GRAM domain containing 1B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q24.1
Genomic location:
Preferred name:
NM_001387025.1(GRAMD1B):c.811C>T (p.Arg271Ter)
HGVS:
  • NC_000011.10:g.123594776C>T
  • NM_001286563.3:c.403C>T
  • NM_001286564.3:c.262C>T
  • NM_001330396.3:c.262C>T
  • NM_001367418.2:c.463C>T
  • NM_001367419.2:c.463C>T
  • NM_001367420.2:c.463C>T
  • NM_001367421.2:c.679C>T
  • NM_001387024.1:c.811C>T
  • NM_001387025.1:c.811C>TMANE SELECT
  • NM_001387026.1:c.808C>T
  • NM_001387028.1:c.382C>T
  • NM_001387029.1:c.382C>T
  • NM_001387030.1:c.262C>T
  • NM_001387031.1:c.262C>T
  • NM_001387032.1:c.262C>T
  • NM_001387033.1:c.262C>T
  • NM_001387034.1:c.262C>T
  • NM_001387035.1:c.262C>T
  • NM_020716.4:c.382C>T
  • NP_001273492.1:p.Arg135Ter
  • NP_001273493.1:p.Arg88Ter
  • NP_001317325.1:p.Arg88Ter
  • NP_001354347.1:p.Arg155Ter
  • NP_001354348.1:p.Arg155Ter
  • NP_001354349.1:p.Arg155Ter
  • NP_001354350.1:p.Arg227Ter
  • NP_001373953.1:p.Arg271Ter
  • NP_001373954.1:p.Arg271Ter
  • NP_001373955.1:p.Arg270Ter
  • NP_001373957.1:p.Arg128Ter
  • NP_001373958.1:p.Arg128Ter
  • NP_001373959.1:p.Arg88Ter
  • NP_001373960.1:p.Arg88Ter
  • NP_001373961.1:p.Arg88Ter
  • NP_001373962.1:p.Arg88Ter
  • NP_001373963.1:p.Arg88Ter
  • NP_001373964.1:p.Arg88Ter
  • NP_065767.1:p.Arg128Ter
  • NC_000011.9:g.123465484C>T
  • NM_020716.1:c.382C>T
Protein change:
R128*
Links:
dbSNP: rs1951071576
NCBI 1000 Genomes Browser:
rs1951071576
Molecular consequence:
  • NM_001286563.3:c.403C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001286564.3:c.262C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330396.3:c.262C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001367418.2:c.463C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001367419.2:c.463C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001367420.2:c.463C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001367421.2:c.679C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387024.1:c.811C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387025.1:c.811C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387026.1:c.808C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387028.1:c.382C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387029.1:c.382C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387030.1:c.262C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387031.1:c.262C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387032.1:c.262C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387033.1:c.262C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387034.1:c.262C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387035.1:c.262C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_020716.4:c.382C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001479449University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Likely pathogenicinheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.

Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, Azeem Z, Ullah I, Bamshad MJ, Nickerson DA, Schrauwen I, Ahmad W, Ansar M, et al.

Hum Genet. 2018 Sep;137(9):735-752. doi: 10.1007/s00439-018-1928-6. Epub 2018 Aug 22.

PubMed [citation]
PMID:
30167849
PMCID:
PMC6201268

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479449.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 30, 2023