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NM_198525.3(KIF7):c.50G>A (p.Arg17Gln) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 20, 2024
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:
RCV004727144.1

Allele description [Variation Report for NM_198525.3(KIF7):c.50G>A (p.Arg17Gln)]

NM_198525.3(KIF7):c.50G>A (p.Arg17Gln)

Gene:
KIF7:kinesin family member 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_198525.3(KIF7):c.50G>A (p.Arg17Gln)
HGVS:
  • NC_000015.10:g.89652881C>T
  • NG_030338.1:g.7571G>A
  • NM_198525.3:c.50G>AMANE SELECT
  • NP_940927.2:p.Arg17Gln
  • NC_000015.9:g.90196112C>T
  • NM_198525.2:c.50G>A
Protein change:
R17Q
Links:
dbSNP: rs949983017
NCBI 1000 Genomes Browser:
rs949983017
Molecular consequence:
  • NM_198525.3:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Acrocallosal syndrome (ACLS)
Synonyms:
HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM; Acrocallosal syndrome, Schinzel type; Schinzel syndrome 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008708; MedGen: C0796147; Orphanet: 36; OMIM: 200990
Name:
Multiple epiphyseal dysplasia, Al-Gazali type
Synonyms:
Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
Identifiers:
MONDO: MONDO:0011778; MedGen: C1846722; Orphanet: 166024; OMIM: 607131
Name:
Hydrolethalus syndrome 2 (HLS2)
Identifiers:
MONDO: MONDO:0013585; MedGen: C3279899; Orphanet: 2189; OMIM: 614120

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV0053289803billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Sep 20, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

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 3billion, SCV005328980.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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

Last Updated: Oct 8, 2024