VCV001401323.7 - ClinVar

NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(2)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Uncertain significance

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)

Variation ID: 1401323 Accession: VCV001401323.7

Type and length

Inversion, 2 bp

Location

Cytogenetic: 7q11.23 7: 75985635-75985636 (GRCh38) [ NCBI UCSC ] 7: 75614953-75614954 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Mar 28, 2022	Feb 7, 2023	Dec 29, 2021

HGVS

Nucleotide	Protein	Molecular consequence
NM_001395413.1:c.1446_1447inv MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_001382342.1:p.Gly483Ser	missense
NM_000941.2:c.1455_1456delinsCA
NM_001367562.3:c.1446_1447inv	NP_001354491.2:p.Gly483Ser	missense
NM_001382655.3:c.1500_1501inv	NP_001369584.2:p.Gly501Ser	missense
NM_001382657.2:c.1446_1447inv	NP_001369586.2:p.Gly483Ser	missense
NM_001382658.3:c.1446_1447inv	NP_001369587.2:p.Gly483Ser	missense
NM_001382659.3:c.1446_1447inv	NP_001369588.2:p.Gly483Ser	missense
NM_001382662.3:c.1296_1297inv	NP_001369591.2:p.Gly433Ser	missense
NC_000007.14:g.75985635_75985636inv
NC_000007.13:g.75614953_75614954inv
NG_008930.1:g.75534_75535inv

... more HGVS ... less HGVS

Protein change

G433S, G483S, G501S

Other names

Canonical SPDI

NC_000007.14:75985634:TG:CA

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
POR		-	-	GRCh38 GRCh37	720	862

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	Uncertain significance (1)	criteria provided, single submitter	Dec 29, 2021	RCV001906272.6
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	Uncertain significance (1)	criteria provided, single submitter	Dec 20, 2021	RCV002482783.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Uncertain significance (Dec 20, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Affected status: unknown Allele origin: unknown	Fulgent Genetics, Fulgent Genetics Accession: SCV002791603.1 First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022
Uncertain significance (Dec 29, 2021)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV002175533.2 First in ClinVar: Mar 28, 2022 Last updated: Feb 07, 2023	Comment: This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 486 of the POR protein (p.Gly486Ser). … (more) This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 486 of the POR protein (p.Gly486Ser). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with POR-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)

Comment:

This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 486 of the POR protein (p.Gly486Ser). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with POR-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Comment:

Citations for germline classification of this variant

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for this variant ...

Record last updated Sep 29, 2024

ClinVar Genomic variation as it relates to human health

NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...