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NM_001008212.2(OPTN):c.1197_1198inv (p.His400Tyr) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 29, 2022
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:
RCV003054515.3

Allele description [Variation Report for NM_001008212.2(OPTN):c.1197_1198inv (p.His400Tyr)]

NM_001008212.2(OPTN):c.1197_1198inv (p.His400Tyr)

Gene:
OPTN:optineurin [Gene - OMIM - HGNC]
Variant type:
Inversion
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_001008212.2(OPTN):c.1197_1198inv (p.His400Tyr)
HGVS:
  • NC_000010.11:g.13125994_13125995inv
  • NG_012876.1:g.30913_30914inv
  • NM_001008211.1:c.1197_1198inv
  • NM_001008212.2:c.1197_1198invMANE SELECT
  • NM_001008213.1:c.1197_1198inv
  • NM_021980.4:c.1197_1198inv
  • NP_001008212.1:p.His400Tyr
  • NP_001008213.1:p.His400Tyr
  • NP_001008214.1:p.His400Tyr
  • NP_068815.2:p.His400Tyr
  • NC_000010.10:g.13167994_13167995delinsGT
  • NC_000010.10:g.13167994_13167995inv
Protein change:
H400Y
Molecular consequence:
  • NM_001008211.1:c.1197_1198inv - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001008212.2:c.1197_1198inv - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001008213.1:c.1197_1198inv - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021980.4:c.1197_1198inv - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary open angle glaucoma (POAG)
Synonyms:
OPTN-related open angle glaucoma
Identifiers:
MONDO: MONDO:0100553; MedGen: C0339573; OMIM: 137760
Name:
Amyotrophic lateral sclerosis type 12 (ALS12)
Synonyms:
AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
Identifiers:
MONDO: MONDO:0013264; MedGen: C3150692; Orphanet: 803; OMIM: 613435
Name:
Glaucoma 1, open angle, E
Identifiers:
MedGen: C1842026

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003337646Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Mar 29, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV003337646.2

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

Description

Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with OPTN-related conditions. 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 sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 400 of the OPTN protein (p.His400Tyr). 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.

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

Last Updated: Sep 29, 2024