U.S. flag

An official website of the United States government

NM_021175.4(HAMP):c.218G>A (p.Cys73Tyr) AND Hereditary hemochromatosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 9, 2015
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:
RCV001373192.6

Allele description [Variation Report for NM_021175.4(HAMP):c.218G>A (p.Cys73Tyr)]

NM_021175.4(HAMP):c.218G>A (p.Cys73Tyr)

Gene:
HAMP:hepcidin antimicrobial peptide [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.12
Genomic location:
Preferred name:
NM_021175.4(HAMP):c.218G>A (p.Cys73Tyr)
HGVS:
  • NC_000019.10:g.35285005G>A
  • NG_011563.2:g.7499G>A
  • NM_021175.4:c.218G>AMANE SELECT
  • NP_066998.1:p.Cys73Tyr
  • LRG_791t1:c.218G>A
  • LRG_791:g.7499G>A
  • LRG_791p1:p.Cys73Tyr
  • NC_000019.9:g.35775908G>A
  • NG_011563.1:g.7499G>A
  • NM_021175.2:c.218G>A
Protein change:
C73Y
Links:
dbSNP: rs863224779
NCBI 1000 Genomes Browser:
rs863224779
Molecular consequence:
  • NM_021175.4:c.218G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary hemochromatosis (HFE)
Identifiers:
MONDO: MONDO:0006507; MedGen: C0392514; OMIM: PS235200

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
SCV001569897Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Feb 9, 2015) 		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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001569897.4

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

Description

In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been published in the literature and is not present in population databases. This sequence change replaces cysteine with tyrosine at codon 73 of the HAMP protein (p.Cys73Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine.

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

Last Updated: May 12, 2024