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NM_000559.3(HBG1):c.227C>T (p.Thr76Ile) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Mar 28, 2016
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:
RCV000455125.12

Allele description [Variation Report for NM_000559.3(HBG1):c.227C>T (p.Thr76Ile)]

NM_000559.3(HBG1):c.227C>T (p.Thr76Ile)

Genes:
LOC106099064:HBG1 recombination region [Gene]
HBG1:hemoglobin subunit gamma 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000559.3(HBG1):c.227C>T (p.Thr76Ile)
Other names:
I75T
HGVS:
  • NC_000011.10:g.5249456G>A
  • NG_000007.3:g.48160C>T
  • NG_042298.1:g.489G>A
  • NM_000559.3:c.227C>TMANE SELECT
  • NP_000550.2:p.Thr76Ile
  • NP_000550.2:p.Thr76Ile
  • NC_000011.9:g.5270686G>A
  • NM_000559.2:c.227C>T
Protein change:
T76I; ILE75THR
Links:
OMIM: 142200.0001; OMIM: 142200.0018; OMIM: 142200.0032; OMIM: 142200.0037; dbSNP: rs1061234
NCBI 1000 Genomes Browser:
rs1061234
Molecular consequence:
  • NM_000559.3:c.227C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000539270Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Benign
(Mar 28, 2016)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000539270.1

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

Description

Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency

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

Last Updated: Jul 15, 2024