NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 20, 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:: RCV002482998.1

Allele description [Variation Report for NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His)]

NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His)

Gene:

ABCC9:ATP binding cassette subfamily C member 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

Preferred name:

NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His)

HGVS:

NC_000012.12:g.21906141A>G
NG_012819.1:g.35554T>C
NM_001377273.1:c.1603T>C
NM_001377274.1:c.739T>C
NM_005691.4:c.1603T>C
NM_020297.4:c.1603T>CMANE SELECT
NP_001364202.1:p.Tyr535His
NP_001364203.1:p.Tyr247His
NP_005682.2:p.Tyr535His
NP_005682.2:p.Tyr535His
NP_064693.2:p.Tyr535His
LRG_377t1:c.1603T>C
LRG_377t2:c.1603T>C
LRG_377:g.35554T>C
NC_000012.11:g.22059075A>G
NM_005691.2:c.1603T>C
NM_005691.3:c.1603T>C
NM_020297.2:c.1603T>C
c.1603T>C

Protein change:

Y247H

Links:

dbSNP: rs397517184

NCBI 1000 Genomes Browser:

rs397517184

Molecular consequence:

NM_001377273.1:c.1603T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001377274.1:c.739T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_005691.4:c.1603T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_020297.4:c.1603T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypertrichotic osteochondrodysplasia Cantu type
Synonyms:: Hypertrichotic osteochondrodysplasia; Cantu syndrome
Identifiers:: MONDO: MONDO:0009406; MedGen: C0795905; Orphanet: 1517; OMIM: 239850

Name:: Dilated cardiomyopathy 1O (CMD1O)
Synonyms:: CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA
Identifiers:: MONDO: MONDO:0012062; MedGen: C1837839; Orphanet: 154; OMIM: 608569

Name:: Atrial fibrillation, familial, 12 (ATFB12)
Identifiers:: MONDO: MONDO:0013545; MedGen: C3279695; OMIM: 614050

Name:: Intellectual disability and myopathy syndrome (IDMYS)
Identifiers:: MONDO: MONDO:0859224; MedGen: C5676904; OMIM: 619719

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002789701	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 20, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002789701

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 20, 2021)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Fulgent Genetics, Fulgent Genetics, SCV002789701.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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