NM_000277.3(PAH):c.677_686del (p.Gln226fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 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:: RCV001092607.22

Allele description [Variation Report for NM_000277.3(PAH):c.677_686del (p.Gln226fs)]

NM_000277.3(PAH):c.677_686del (p.Gln226fs)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q23.2

Genomic location:

Preferred name:

NM_000277.3(PAH):c.677_686del (p.Gln226fs)

HGVS:

NC_000012.12:g.102855156_102855165del
NG_008690.2:g.108246_108255del
NM_000277.3:c.677_686delMANE SELECT
NM_001354304.2:c.677_686del
NP_000268.1:p.Gln226fs
NP_001341233.1:p.Gln226fs
NC_000012.11:g.103248934_103248943del

Protein change:

Q226fs

Links:

dbSNP: rs1875355050

NCBI 1000 Genomes Browser:

rs1875355050

Molecular consequence:

NM_000277.3:c.677_686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354304.2:c.677_686del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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ribonuclease III [Pseudomonas putida]
ribonuclease III [Pseudomonas putida]
gi|635297563|gnl|cnhgcs|DW66_5810|g 80305.1|

Protein
LOC124852408 [Hippoglossus stenolepis]
LOC124852408 [Hippoglossus stenolepis]
Gene ID:124852408

Gene
ST6GAL2 [Sorex araneus]
ST6GAL2 [Sorex araneus]
Gene ID:101554513

Gene
ST6GAL2 [Molossus molossus]
ST6GAL2 [Molossus molossus]
Gene ID:118626624

Gene
recombination activating protein 1, partial [Epinephelus tauvina]
recombination activating protein 1, partial [Epinephelus tauvina]
gi|2293348325|gb|UVW56657.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001249184	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Aug 1, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001249184

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Aug 1, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001249184.26

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	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		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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