U.S. flag

An official website of the United States government

NM_005428.4(VAV1):c.909del (p.Asp303fs) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 8, 2023
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:
RCV003313351.1

Allele description [Variation Report for NM_005428.4(VAV1):c.909del (p.Asp303fs)]

NM_005428.4(VAV1):c.909del (p.Asp303fs)

Gene:
VAV1:vav guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_005428.4(VAV1):c.909del (p.Asp303fs)
HGVS:
  • NC_000019.10:g.6826693del
  • NM_001258206.2:c.909del
  • NM_001258207.2:c.813del
  • NM_005428.4:c.909delMANE SELECT
  • NP_001245135.1:p.Asp303fs
  • NP_001245136.1:p.Asp271fs
  • NP_005419.2:p.Asp303fs
  • NC_000019.9:g.6826704del
Protein change:
D271fs
Molecular consequence:
  • NM_001258206.2:c.909del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258207.2:c.813del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005428.4:c.909del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Autism (AUTS)
Synonyms:
Autistic disorder; Autistic disorder of childhood onset
Identifiers:
MONDO: MONDO:0005260; MeSH: D001321; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717
Name:
Precocious puberty
Synonyms:
Sexual precocity; Idiopathic sexual precocity; Familial precocious puberty
Identifiers:
MONDO: MONDO:0000088; MedGen: C0034013; Human Phenotype Ontology: HP:0000826
Name:
Autistic behavior
Identifiers:
MedGen: C0856975; Human Phenotype Ontology: HP:0000729
Name:
Expressive language delay
Identifiers:
MedGen: C0454641; Human Phenotype Ontology: HP:0002474
Name:
Hyperactivity
Identifiers:
MedGen: C0424295; Human Phenotype Ontology: HP:0000752
Name:
Hearing impairment
Identifiers:
MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365
Name:
Pes planus
Synonyms:
flatfoot
Identifiers:
MONDO: MONDO:0005293; MedGen: C0016202; Human Phenotype Ontology: HP:0001763
Name:
Macrocephaly
Synonyms:
Macrocephalus; large head
Identifiers:
MedGen: C2243051; Human Phenotype Ontology: HP:0000256
Name:
Anxiety
Synonyms:
Anxiety-related personality traits
Identifiers:
MONDO: MONDO:0011918; MedGen: C0003467; OMIM: 607834; Human Phenotype Ontology: HP:0000739
Name:
Tremor
Synonyms:
tremors
Identifiers:
MedGen: C0040822; Human Phenotype Ontology: HP:0001337
Name:
Attention deficit hyperactivity disorder (ADHD)
Identifiers:
MONDO: MONDO:0007743; MedGen: C1263846; Human Phenotype Ontology: HP:0007018

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
SCV004012117HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - HudsonAlpha-AGHI-WGS
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 8, 2023) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedresearch

Citations

PubMed

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 HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - HudsonAlpha-AGHI-WGS, SCV004012117.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 9, 2024