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NM_001097577.3(ANG):c.110A>G (p.His37Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 17, 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:
RCV001922045.4

Allele description [Variation Report for NM_001097577.3(ANG):c.110A>G (p.His37Arg)]

NM_001097577.3(ANG):c.110A>G (p.His37Arg)

Genes:
EGILA:EGFR interacting lncRNA [Gene - HGNC]
ANG:angiogenin [Gene - OMIM - HGNC]
RNASE4:ribonuclease A family member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_001097577.3(ANG):c.110A>G (p.His37Arg)
HGVS:
  • NC_000014.9:g.20693674A>G
  • NG_008717.2:g.14498A>G
  • NG_033053.1:g.14462A>G
  • NM_001097577.3:c.110A>GMANE SELECT
  • NM_001145.4:c.110A>G
  • NM_001282192.2:c.-18+24A>G
  • NM_001282193.2:c.-17-5681A>G
  • NM_001385271.1:c.110A>G
  • NM_001385272.1:c.110A>G
  • NM_001385273.1:c.110A>G
  • NM_001385274.1:c.110A>G
  • NM_002937.5:c.-17-5681A>GMANE SELECT
  • NM_194431.3:c.-18+4800A>G
  • NP_001091046.1:p.His37Arg
  • NP_001136.1:p.His37Arg
  • NP_001372200.1:p.His37Arg
  • NP_001372201.1:p.His37Arg
  • NP_001372202.1:p.His37Arg
  • NP_001372203.1:p.His37Arg
  • LRG_653t1:c.110A>G
  • LRG_653:g.14498A>G
  • LRG_653p1:p.His37Arg
  • NC_000014.8:g.21161833A>G
  • NR_174964.1:n.542T>C
Protein change:
H37R
Links:
dbSNP: rs756137289
NCBI 1000 Genomes Browser:
rs756137289
Molecular consequence:
  • NM_001282192.2:c.-18+24A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282193.2:c.-17-5681A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002937.5:c.-17-5681A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_194431.3:c.-18+4800A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001097577.3:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145.4:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385271.1:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385272.1:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385273.1:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385274.1:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_174964.1:n.542T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002149729Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Oct 17, 2022) 		germlineclinical testing

PubMed (2)
[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

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.

van Es MA, Schelhaas HJ, van Vught PW, Ticozzi N, Andersen PM, Groen EJ, Schulte C, Blauw HM, Koppers M, Diekstra FP, Fumoto K, LeClerc AL, Keagle P, Bloem BR, Scheffer H, van Nuenen BF, van Blitterswijk M, van Rheenen W, Wills AM, Lowe PP, Hu GF, Yu W, et al.

Ann Neurol. 2011 Dec;70(6):964-73. doi: 10.1002/ana.22611. Review.

PubMed [citation]
PMID:
22190368
PMCID:
PMC5560057

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, SCV002149729.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1381736). This missense change has been observed in individual(s) with Parkinson disease (PMID: 22190368). This variant is present in population databases (rs756137289, gnomAD 0.003%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 37 of the ANG protein (p.His37Arg).

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

Last Updated: Sep 29, 2024