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NM_001097577.3(ANG):c.250A>G (p.Lys84Glu) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 26, 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:
RCV000516549.2

Allele description [Variation Report for NM_001097577.3(ANG):c.250A>G (p.Lys84Glu)]

NM_001097577.3(ANG):c.250A>G (p.Lys84Glu)

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.250A>G (p.Lys84Glu)
HGVS:
  • NC_000014.9:g.20693814A>G
  • NG_008717.2:g.14638A>G
  • NG_033053.1:g.14602A>G
  • NM_001097577.3:c.250A>GMANE SELECT
  • NM_001145.4:c.250A>G
  • NM_001282192.2:c.-18+164A>G
  • NM_001282193.2:c.-17-5541A>G
  • NM_001385271.1:c.250A>G
  • NM_001385272.1:c.250A>G
  • NM_001385273.1:c.250A>G
  • NM_001385274.1:c.250A>G
  • NM_002937.5:c.-17-5541A>GMANE SELECT
  • NM_194431.3:c.-18+4940A>G
  • NP_001091046.1:p.Lys84Glu
  • NP_001136.1:p.Lys84Glu
  • NP_001372200.1:p.Lys84Glu
  • NP_001372201.1:p.Lys84Glu
  • NP_001372202.1:p.Lys84Glu
  • NP_001372203.1:p.Lys84Glu
  • LRG_653t1:c.250A>G
  • LRG_653:g.14638A>G
  • LRG_653p1:p.Lys84Glu
  • NC_000014.8:g.21161973A>G
  • P03950:p.Lys84Glu
Protein change:
K84E
Links:
UniProtKB: P03950#VAR_013148; dbSNP: rs17560
NCBI 1000 Genomes Browser:
rs17560
Molecular consequence:
  • NM_001282192.2:c.-18+164A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282193.2:c.-17-5541A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002937.5:c.-17-5541A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_194431.3:c.-18+4940A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001097577.3:c.250A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145.4:c.250A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385271.1:c.250A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385272.1:c.250A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385273.1:c.250A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385274.1:c.250A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000612328Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Benign
(Sep 26, 2016) 		germlineclinical testing

PubMed (3)
[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

Mechanisms of loss of functions of human angiogenin variants implicated in amyotrophic lateral sclerosis.

Padhi AK, Kumar H, Vasaikar SV, Jayaram B, Gomes J.

PLoS One. 2012;7(2):e32479. doi: 10.1371/journal.pone.0032479. Epub 2012 Feb 27.

PubMed [citation]
PMID:
22384259
PMCID:
PMC3288110

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.

Cady J, Allred P, Bali T, Pestronk A, Goate A, Miller TM, Mitra RD, Ravits J, Harms MB, Baloh RH.

Ann Neurol. 2015 Jan;77(1):100-13. doi: 10.1002/ana.24306. Epub 2014 Nov 27.

PubMed [citation]
PMID:
25382069
PMCID:
PMC4293318
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics, SCV000612328.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024