NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) AND Acrocallosal syndrome

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Likely benign(1);Pathogenic(1) (Last evaluated: Nov 17, 2020)
Review status:1 star out of maximum of 4 stars
criteria provided, conflicting interpretations

Help

Based on:: 3 submissions [Details]
Record status:: current
Accession:: RCV000201541.4

Allele description [Variation Report for NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)]

NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)

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.2981A>G (p.Gln994Arg)

HGVS:

NC_000015.10:g.89631625T>C
NG_030338.1:g.28827A>G
NM_198525.3:c.2981A>GMANE SELECT
NP_940927.2:p.Gln994Arg
NC_000015.9:g.90174856T>C
NM_198525.2:c.2981A>G
Q2M1P5:p.Gln994Arg

Protein change:

Q994R

Links:

UniProtKB: Q2M1P5#VAR_066455; dbSNP: rs138410949

NCBI 1000 Genomes Browser:

rs138410949

Molecular consequence:

NM_198525.3:c.2981A>G - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000256440	UW Hindbrain Malformation Research Program,University of Washington See additional submitters University of Washington Center for Mendelian Genomics, University of Washington	criteria provided, single submitter Bachmann-Gagescu et al. (J Med Genet. 2015)	Pathogenic (Feb 23, 2015)	unknown	research	PubMed (1) [See all records that cite this PMID]
SCV001020715	Invitae	criteria provided, single submitter Invitae Variant Classification Sherloc (09022015)	Likely benign (Nov 17, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001280350	Illumina Clinical Services Laboratory,Illumina	criteria provided, single submitter ICSL Variant Classification Criteria 13 December 2019	Benign (Apr 27, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000256440

UW Hindbrain Malformation Research Program,University of Washington

See additional submitters

criteria provided, single submitter

Bachmann-Gagescu et al. (J Med Genet. 2015)

Pathogenic
(Feb 23, 2015)

unknown

research

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

SCV001020715

Invitae

criteria provided, single submitter

Invitae Variant Classification Sherloc (09022015)

Likely benign
(Nov 17, 2020)

germline

clinical testing

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

SCV001280350

Illumina Clinical Services Laboratory,Illumina

criteria provided, single submitter

ICSL Variant Classification Criteria 13 December 2019

Benign
(Apr 27, 2017)

germline

clinical testing

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

Citation Link

Summary from all submissions

Help

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method

Citations

PubMed

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, et al.

J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.

PubMed [citation]

PMID:: 26092869
PMCID:: PMC5082428

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

See all PubMed Citations (3)

Details of each submission

From UW Hindbrain Malformation Research Program,University of Washington, SCV000256440.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Invitae, SCV001020715.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Illumina Clinical Services Laboratory,Illumina, SCV001280350.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 17, 2021

ClinVar

Relating variation to medicine