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NM_198880.3(QRICH1):c.1807G>T (p.Val603Leu) AND Ververi-Brady syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 21, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001262345.2

Allele description [Variation Report for NM_198880.3(QRICH1):c.1807G>T (p.Val603Leu)]

NM_198880.3(QRICH1):c.1807G>T (p.Val603Leu)

Gene:
QRICH1:glutamine rich 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_198880.3(QRICH1):c.1807G>T (p.Val603Leu)
HGVS:
  • NC_000003.12:g.49033208C>A
  • NG_012091.1:g.1235G>T
  • NM_001320580.2:c.1807G>T
  • NM_001320581.2:c.1807G>T
  • NM_001320582.2:c.1807G>T
  • NM_001320583.2:c.1807G>T
  • NM_001320584.1:c.1807G>T
  • NM_001320585.1:c.1807G>T
  • NM_017730.4:c.1807G>T
  • NM_198880.3:c.1807G>TMANE SELECT
  • NP_001307509.1:p.Val603Leu
  • NP_001307510.1:p.Val603Leu
  • NP_001307511.1:p.Val603Leu
  • NP_001307512.1:p.Val603Leu
  • NP_001307513.1:p.Val603Leu
  • NP_001307514.1:p.Val603Leu
  • NP_060200.2:p.Val603Leu
  • NP_942581.1:p.Val603Leu
  • NC_000003.11:g.49070641C>A
  • NM_017730.3:c.1807G>T
Protein change:
V603L
Links:
dbSNP: rs2093252866
NCBI 1000 Genomes Browser:
rs2093252866
Molecular consequence:
  • NM_001320580.2:c.1807G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320581.2:c.1807G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320582.2:c.1807G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320583.2:c.1807G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320584.1:c.1807G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320585.1:c.1807G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017730.4:c.1807G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198880.3:c.1807G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ververi-Brady syndrome
Identifiers:
MONDO: MONDO:0060707; MedGen: C4693824; OMIM: 617982

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001440171Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 21, 2021) 		de novoresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.

Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, et al.

Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11.

PubMed [citation]
PMID:
34859529

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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001440171.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022