NM_000264.5(PTCH1):c.724C>G (p.Gln242Glu) AND Gorlin syndrome

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

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 4, 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:: RCV001053530.5

Allele description

NM_000264.5(PTCH1):c.724C>G (p.Gln242Glu)

Gene:

PTCH1:patched 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

Preferred name:

NM_000264.5(PTCH1):c.724C>G (p.Gln242Glu)

HGVS:

NC_000009.12:g.95481971G>C
NG_007664.1:g.39995C>G
NM_000264.5:c.724C>GMANE SELECT
NM_001083602.3:c.526C>G
NM_001083603.3:c.721C>G
NM_001083604.3:c.271C>G
NM_001083605.3:c.271C>G
NM_001083606.3:c.271C>G
NM_001083607.3:c.271C>G
NM_001354918.2:c.724C>G
NM_001354919.2:c.526C>G
NP_000255.2:p.Gln242Glu
NP_001077071.1:p.Gln176Glu
NP_001077072.1:p.Gln241Glu
NP_001077073.1:p.Gln91Glu
NP_001077074.1:p.Gln91Glu
NP_001077075.1:p.Gln91Glu
NP_001077076.1:p.Gln91Glu
NP_001341847.1:p.Gln242Glu
NP_001341848.1:p.Gln176Glu
LRG_515t1:c.724C>G
LRG_515:g.39995C>G
NC_000009.11:g.98244253G>C
NM_000264.3:c.724C>G
NR_149061.2:n.1629C>G

Protein change:

Q176E

Links:

dbSNP: rs376353501

NCBI 1000 Genomes Browser:

rs376353501

Molecular consequence:

NM_000264.5:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083602.3:c.526C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083603.3:c.721C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083604.3:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083605.3:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083606.3:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083607.3:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354918.2:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354919.2:c.526C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_149061.2:n.1629C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Gorlin syndrome
Synonyms:: Basal cell nevus syndrome
Identifiers:: MONDO: MONDO:0007187; MedGen: C0004779; Orphanet: 377; OMIM: PS109400

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Homo sapiens 3-hydroxyisobutyryl-CoA hydrolase (HIBCH), transcript variant 2, mRNA; nuclear gene for mitochondrial product
gi|1676325238|ref|NM_198047.3|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001217797	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Aug 4, 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

SCV001217797

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Aug 4, 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, SCV001217797.5

#	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: Sep 16, 2024

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