NM_000103.4(CYP19A1):c.671G>A (p.Trp224Ter) AND not provided

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 12, 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:: RCV003702410.1

Allele description

NM_000103.4(CYP19A1):c.671G>A (p.Trp224Ter)

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.671G>A (p.Trp224Ter)

HGVS:

NC_000015.10:g.51218613C>T
NG_007982.1:g.124986G>A
NM_000103.4:c.671G>AMANE SELECT
NM_001347248.1:c.671G>A
NM_001347249.2:c.671G>A
NM_001347250.2:c.671G>A
NM_001347251.2:c.671G>A
NM_001347252.2:c.671G>A
NM_001347253.2:c.671G>A
NM_001347254.2:c.671G>A
NM_001347255.2:c.671G>A
NM_001347256.2:c.671G>A
NM_031226.3:c.671G>A
NP_000094.2:p.Trp224Ter
NP_001334177.1:p.Trp224Ter
NP_001334178.1:p.Trp224Ter
NP_001334179.1:p.Trp224Ter
NP_001334180.1:p.Trp224Ter
NP_001334181.1:p.Trp224Ter
NP_001334182.1:p.Trp224Ter
NP_001334183.1:p.Trp224Ter
NP_001334184.1:p.Trp224Ter
NP_001334185.1:p.Trp224Ter
NP_112503.1:p.Trp224Ter
NC_000015.9:g.51510810C>T

Protein change:

W224*

Molecular consequence:

NM_000103.4:c.671G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001347248.1:c.671G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001347249.2:c.671G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001347250.2:c.671G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001347251.2:c.671G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001347252.2:c.671G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001347253.2:c.671G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001347254.2:c.671G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001347255.2:c.671G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001347256.2:c.671G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_031226.3:c.671G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Mus musculus 9 days embryo whole body cDNA, RIKEN full-length enriched library, ...
Mus musculus 9 days embryo whole body cDNA, RIKEN full-length enriched library, clone:D030077O05 product:preimplantation protein 2, full insert sequence
gi|26094333|dbj|AK051122.1|

Nucleotide
Mus musculus nucleoporin 88, mRNA (cDNA clone IMAGE:30063538), with apparent ret...
Mus musculus nucleoporin 88, mRNA (cDNA clone IMAGE:30063538), with apparent retained intron
gi|31418655|gb|BC053390.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004464750	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 12, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 14602738, 27086564, 27256151, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004464750

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 12, 2023)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

Hypothalamic-pituitary-ovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterocygote for two new point mutations of the CYP19 gene.

Belgorosky A, Pepe C, Marino R, Guercio G, Saraco N, Vaiani E, Rivarola MA.

J Clin Endocrinol Metab. 2003 Nov;88(11):5127-31.

PubMed [citation]

PMID:: 14602738

A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in Humans.

Akçurin S, Türkkahraman D, Kim WY, Durmaz E, Shin JG, Lee SJ.

J Clin Res Pediatr Endocrinol. 2016 Jun 5;8(2):205-10. doi: 10.4274/jcrpe.2761. Epub 2016 Apr 18.

PubMed [citation]

PMID:: 27086564
PMCID:: PMC5096477

See all PubMed Citations (4)

Details of each submission

From Invitae, SCV004464750.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CYP19A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp224*) in the CYP19A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP19A1 are known to be pathogenic (PMID: 14602738, 27086564, 27256151).

#	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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