U.S. flag

An official website of the United States government

NM_001621.5(AHR):c.1910_1911del (p.Gln637fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 21, 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:
RCV002039252.3

Allele description [Variation Report for NM_001621.5(AHR):c.1910_1911del (p.Gln637fs)]

NM_001621.5(AHR):c.1910_1911del (p.Gln637fs)

Gene:
AHR:aryl hydrocarbon receptor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7p21.1
Genomic location:
Preferred name:
NM_001621.5(AHR):c.1910_1911del (p.Gln637fs)
HGVS:
  • NC_000007.14:g.17339735_17339736del
  • NM_001621.5:c.1910_1911delMANE SELECT
  • NP_001612.1:p.Gln637fs
  • NC_000007.13:g.17379359_17379360del
Protein change:
Q637fs
Links:
dbSNP: rs2115370127
NCBI 1000 Genomes Browser:
rs2115370127
Molecular consequence:
  • NM_001621.5:c.1910_1911del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002109936Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 21, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Aryl hydrocarbon receptor deficiency causes dysregulated cellular matrix metabolism and age-related macular degeneration-like pathology.

Hu P, Herrmann R, Bednar A, Saloupis P, Dwyer MA, Yang P, Qi X, Thomas RS, Jaffe GJ, Boulton ME, McDonnell DP, Malek G.

Proc Natl Acad Sci U S A. 2013 Oct 22;110(43):E4069-78. doi: 10.1073/pnas.1307574110. Epub 2013 Oct 8.

PubMed [citation]
PMID:
24106308
PMCID:
PMC3808645

AhR-deficiency as a cause of demyelinating disease and inflammation.

Juricek L, Carcaud J, Pelhaitre A, Riday TT, Chevallier A, Lanzini J, Auzeil N, Laprévote O, Dumont F, Jacques S, Letourneur F, Massaad C, Agulhon C, Barouki R, Beraneck M, Coumoul X.

Sci Rep. 2017 Aug 29;7(1):9794. doi: 10.1038/s41598-017-09621-3.

PubMed [citation]
PMID:
28851966
PMCID:
PMC5575046
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV002109936.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1349767). This variant has not been reported in the literature in individuals affected with AHR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln637Profs*11) in the AHR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AHR are known to be pathogenic (PMID: 24106308, 28851966, 29726989, 31009037).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024