NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter) AND Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 25, 2019
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:: RCV000985273.3

Allele description [Variation Report for NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter)]

NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter)

Gene:

POR:cytochrome p450 oxidoreductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.23

Genomic location:

Preferred name:

NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter)

HGVS:

NC_000007.14:g.75985623C>A
NG_008930.1:g.75522C>A
NM_001367562.3:c.1434C>A
NM_001382655.3:c.1488C>A
NM_001382657.2:c.1434C>A
NM_001382658.3:c.1434C>A
NM_001382659.3:c.1434C>A
NM_001382662.3:c.1284C>A
NM_001395413.1:c.1434C>AMANE SELECT
NP_001354491.2:p.Tyr478Ter
NP_001369584.2:p.Tyr496Ter
NP_001369586.2:p.Tyr478Ter
NP_001369587.2:p.Tyr478Ter
NP_001369588.2:p.Tyr478Ter
NP_001369591.2:p.Tyr428Ter
NP_001382342.1:p.Tyr478Ter
NC_000007.13:g.75614941C>A
NC_000007.13:g.75614941C>A
NM_000941.2:c.1443C>A

Protein change:

Y428*

Links:

dbSNP: rs373613946

NCBI 1000 Genomes Browser:

rs373613946

Molecular consequence:

NM_001367562.3:c.1434C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001382655.3:c.1488C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001382657.2:c.1434C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001382658.3:c.1434C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001382659.3:c.1434C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001382662.3:c.1284C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001395413.1:c.1434C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1)
Synonyms:: POR Deficiency
Identifiers:: MONDO: MONDO:0008726; MedGen: C3150099; OMIM: 201750

Recent activity

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AGENCOURT_10400061 NIH_MGC_82 Homo sapiens cDNA clone IMAGE:6616178 5', mRNA seq...
AGENCOURT_10400061 NIH_MGC_82 Homo sapiens cDNA clone IMAGE:6616178 5', mRNA sequence
gi|22919189|gnl|dbEST|13881060|gb|B 89.1|

Nucleotide
zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X2 [Loxodont...
zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X2 [Loxodonta africana]
gi|2710947971|ref|XP_023412077.2|

Protein
zinc finger ZZ-type and EF-hand domain containing 1, transcript variant X1 [Icti...
zinc finger ZZ-type and EF-hand domain containing 1, transcript variant X1 [Ictidomys tridecemlineatus]
gi|1983953727|gb|KAG3270145.1||gnl| AESOR|product.rna33735

Protein
unnamed protein product [Mus musculus]
unnamed protein product [Mus musculus]
gi|26344097|dbj|BAC35705.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000995980	Klinisk genetik och genomik Research, Gothenburg University	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 25, 2019)	germline	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 31837199

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000995980

Klinisk genetik och genomik Research, Gothenburg University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 25, 2019)

germline

research

PubMed (2)
[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	yes	not provided	not provided	not provided	not provided	not provided	research

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

NGS targeted screening of 100 Scandinavian patients with coronal synostosis.

Topa A, Rohlin A, Andersson MK, Fehr A, Lovmar L, Stenman G, Kölby L.

Am J Med Genet A. 2020 Feb;182(2):348-356. doi: 10.1002/ajmg.a.61427. Epub 2019 Dec 14.

PubMed [citation]

PMID:: 31837199

Details of each submission

From Klinisk genetik och genomik Research, Gothenburg University, SCV000995980.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

#	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

Last Updated: Sep 29, 2024

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