NM_018896.5(CACNA1G):c.664TTC[1] (p.Phe223del) AND multiple conditions

Germline classification:: no classifications from unflagged records (1 submission)
Review status:: no classifications from unflagged records

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:: RCV000162106.5

Allele description [Variation Report for NM_018896.5(CACNA1G):c.664TTC[1] (p.Phe223del)]

NM_018896.5(CACNA1G):c.664TTC[1] (p.Phe223del)

Gene:

CACNA1G:calcium voltage-gated channel subunit alpha1 G [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17q21.33

Genomic location:

Preferred name:

NM_018896.5(CACNA1G):c.664TTC[1] (p.Phe223del)

HGVS:

NC_000017.11:g.50571955TTC[1]
NG_032024.1:g.15888TTC[1]
NM_001256324.2:c.664TTC[1]
NM_001256325.2:c.664TTC[1]
NM_001256326.2:c.664TTC[1]
NM_001256327.2:c.664TTC[1]
NM_001256328.2:c.664TTC[1]
NM_001256329.2:c.664TTC[1]
NM_001256330.2:c.664TTC[1]
NM_001256331.2:c.664TTC[1]
NM_001256332.2:c.664TTC[1]
NM_001256333.2:c.664TTC[1]
NM_001256334.2:c.664TTC[1]
NM_001256359.2:c.664TTC[1]
NM_001256360.2:c.664TTC[1]
NM_001256361.2:c.664TTC[1]
NM_018896.5:c.664TTC[1]MANE SELECT
NM_198376.3:c.664TTC[1]
NM_198377.3:c.664TTC[1]
NM_198378.3:c.664TTC[1]
NM_198379.3:c.664TTC[1]
NM_198380.3:c.664TTC[1]
NM_198382.3:c.664TTC[1]
NM_198383.3:c.664TTC[1]
NM_198384.3:c.664TTC[1]
NM_198385.3:c.664TTC[1]
NM_198386.3:c.664TTC[1]
NM_198387.3:c.664TTC[1]
NM_198388.3:c.664TTC[1]
NM_198396.3:c.664TTC[1]
NP_001243253.1:p.Phe223del
NP_001243254.1:p.Phe223del
NP_001243255.1:p.Phe223del
NP_001243256.1:p.Phe223del
NP_001243257.1:p.Phe223del
NP_001243258.1:p.Phe223del
NP_001243259.1:p.Phe223del
NP_001243260.1:p.Phe223del
NP_001243261.1:p.Phe223del
NP_001243262.1:p.Phe223del
NP_001243263.1:p.Phe223del
NP_001243288.1:p.Phe223del
NP_001243289.1:p.Phe223del
NP_001243290.1:p.Phe223del
NP_061496.2:p.Phe223del
NP_938190.1:p.Phe223del
NP_938191.2:p.Phe223del
NP_938192.1:p.Phe223del
NP_938193.1:p.Phe223del
NP_938194.1:p.Phe223del
NP_938196.1:p.Phe223del
NP_938197.1:p.Phe223del
NP_938198.1:p.Phe223del
NP_938199.1:p.Phe223del
NP_938200.1:p.Phe223del
NP_938201.1:p.Phe223del
NP_938202.1:p.Phe223del
NP_938406.1:p.Phe223del
NC_000017.10:g.48649316TTC[1]
NM_198382.2:c.667_669delTTC
NR_046054.2:n.1409TTC[1]
NR_046055.2:n.1409TTC[1]
NR_046056.2:n.1409TTC[1]
NR_046057.2:n.1409TTC[1]
NR_046058.2:n.1409TTC[1]

Protein change:

F223del

Links:

dbSNP: rs730882202

NCBI 1000 Genomes Browser:

rs730882202

Molecular consequence:

NM_001256324.2:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001256325.2:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001256326.2:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001256327.2:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001256328.2:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001256329.2:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001256330.2:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001256331.2:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001256332.2:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001256333.2:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001256334.2:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001256359.2:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001256360.2:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001256361.2:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_018896.5:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198376.3:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198377.3:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198378.3:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198379.3:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198380.3:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198382.3:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198383.3:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198384.3:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198385.3:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198386.3:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198387.3:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198388.3:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198396.3:c.664TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_046054.2:n.1409TTC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_046055.2:n.1409TTC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_046056.2:n.1409TTC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_046057.2:n.1409TTC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_046058.2:n.1409TTC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Abnormality of the skeletal system
Identifiers:: MedGen: C4021790; Human Phenotype Ontology: HP:0000924

Name:: Hirsutism
Identifiers:: MedGen: C0019572; Human Phenotype Ontology: HP:0001007

Name:: Abnormal facial shape
Synonyms:: Dysmorphic facies; Dysmorphic facial features
Identifiers:: MedGen: C0424503; Human Phenotype Ontology: HP:0001999

Name:: Intellectual disability, severe
Identifiers:: MedGen: C0036857; Human Phenotype Ontology: HP:0010864

Recent activity

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ADP/ATP translocase 4 isoform 1 [Homo sapiens]
ADP/ATP translocase 4 isoform 1 [Homo sapiens]
gi|13775208|ref|NP_112581.1|

Protein
Homo sapiens vav guanine nucleotide exchange factor 2 (VAV2), transcript variant...
Homo sapiens vav guanine nucleotide exchange factor 2 (VAV2), transcript variant 3, mRNA
gi|2288045649|ref|NM_001411028.1|

Nucleotide
Homo sapiens BAC clone CH17-257A9 from chromosome 21, complete sequence
Homo sapiens BAC clone CH17-257A9 from chromosome 21, complete sequence
gi|392996983|gb|AC245051.3||gnl|wug 17-257A9

Nucleotide
Caenorhabditis elegans protein-tyrosine-phosphatase (ptp-3), mRNA
Caenorhabditis elegans protein-tyrosine-phosphatase (ptp-3), mRNA
gi|2220285820|ref|NM_001404237.1|

Nucleotide
disks large homolog 3 isoform X7 [Echeneis naucrates]
disks large homolog 3 isoform X7 [Echeneis naucrates]
gi|1685571588|ref|XP_029369203.1|

Protein

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No clinical assertions found. See "Flagged submissions" below.

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, et al.

Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.

PubMed [citation]

PMID:: 25558065

Details of each submission

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV000196391.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000196391	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	flagged submission Reason: This record appears to be redundant with a more recent record from the same submitter. Notes: SCV000196391 appears to be redundant with SCV000221685. (research)	Likely pathogenic (Dec 1, 2014)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000196391

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

flagged submission

Reason: This record appears to be redundant with a more recent record from the same submitter.

Notes: SCV000196391 appears to be redundant with SCV000221685.

(research)

Likely pathogenic
(Dec 1, 2014)

germline

research

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

Last Updated: Oct 8, 2024

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Relating variation to medicine