NM_000103.4(CYP19A1):c.1317A>C (p.Gly439=) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 24, 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:: RCV003721509.1

Allele description

NM_000103.4(CYP19A1):c.1317A>C (p.Gly439=)

Genes:

MIR4713HG:MIR4713 host gene [Gene - HGNC]
CYP19A1:cytochrome P450 family 19 subfamily A member 1 [Gene - OMIM - HGNC]
PIRC66:piwi-interacting RNA cluster 66 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.2

Genomic location:

Preferred name:

NM_000103.4(CYP19A1):c.1317A>C (p.Gly439=)

HGVS:

NC_000015.10:g.51211003T>G
NG_007982.1:g.132596A>C
NM_000103.4:c.1317A>CMANE SELECT
NM_001347248.1:c.1317A>C
NM_001347249.2:c.1317A>C
NM_001347250.2:c.1317A>C
NM_001347251.2:c.1317A>C
NM_001347252.2:c.1317A>C
NM_001347253.2:c.1317A>C
NM_001347254.2:c.1317A>C
NM_001347255.2:c.1317A>C
NM_001347256.2:c.1317A>C
NM_031226.3:c.1317A>C
NP_000094.2:p.Gly439=
NP_001334177.1:p.Gly439=
NP_001334178.1:p.Gly439=
NP_001334179.1:p.Gly439=
NP_001334180.1:p.Gly439=
NP_001334181.1:p.Gly439=
NP_001334182.1:p.Gly439=
NP_001334183.1:p.Gly439=
NP_001334184.1:p.Gly439=
NP_001334185.1:p.Gly439=
NP_112503.1:p.Gly439=
NC_000015.9:g.51503200T>G

Molecular consequence:

NM_000103.4:c.1317A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001347248.1:c.1317A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001347249.2:c.1317A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001347250.2:c.1317A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001347251.2:c.1317A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001347252.2:c.1317A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001347253.2:c.1317A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001347254.2:c.1317A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001347255.2:c.1317A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001347256.2:c.1317A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_031226.3:c.1317A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Axia theresiae voucher MM11115 wingless (wgl) gene, partial cds
Axia theresiae voucher MM11115 wingless (wgl) gene, partial cds
gi|307643474|gb|GU829697.1|

Nucleotide
ubiquitin-protein ligase E3 [Schizosaccharomyces pombe]
ubiquitin-protein ligase E3 [Schizosaccharomyces pombe]
gi|429242472|ref|NP_593762.2|

Protein
RecName: Full=Receptor-interacting serine/threonine-protein kinase 4; AltName: F...
RecName: Full=Receptor-interacting serine/threonine-protein kinase 4; AltName: Full=Ankyrin repeat domain-containing protein 3; AltName: Full=PKC-delta-interacting protein kinase
gi|10719883|sp|P57078.1|RIPK4_HUMAN

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004500287	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Apr 24, 2023)	germline	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

SCV004500287

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Apr 24, 2023)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV004500287.1

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

Last Updated: Feb 28, 2024

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