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NM_001097577.3(ANG):c.96C>A (p.His32Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 7, 2021
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:
RCV002793464.2

Allele description [Variation Report for NM_001097577.3(ANG):c.96C>A (p.His32Gln)]

NM_001097577.3(ANG):c.96C>A (p.His32Gln)

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.96C>A (p.His32Gln)
HGVS:
  • NC_000014.9:g.20693660C>A
  • NG_008717.2:g.14484C>A
  • NG_033053.1:g.14448C>A
  • NM_001097577.3:c.96C>AMANE SELECT
  • NM_001145.4:c.96C>A
  • NM_001282192.2:c.-18+10C>A
  • NM_001282193.2:c.-17-5695C>A
  • NM_001385271.1:c.96C>A
  • NM_001385272.1:c.96C>A
  • NM_001385273.1:c.96C>A
  • NM_001385274.1:c.96C>A
  • NM_002937.5:c.-17-5695C>AMANE SELECT
  • NM_194431.3:c.-18+4786C>A
  • NP_001091046.1:p.His32Gln
  • NP_001136.1:p.His32Gln
  • NP_001372200.1:p.His32Gln
  • NP_001372201.1:p.His32Gln
  • NP_001372202.1:p.His32Gln
  • NP_001372203.1:p.His32Gln
  • LRG_653t1:c.96C>A
  • LRG_653:g.14484C>A
  • LRG_653p1:p.His32Gln
  • NC_000014.8:g.21161819C>A
  • NR_174964.1:n.556G>T
Protein change:
H32Q
Molecular consequence:
  • NM_001282192.2:c.-18+10C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282193.2:c.-17-5695C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002937.5:c.-17-5695C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_194431.3:c.-18+4786C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001097577.3:c.96C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145.4:c.96C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385271.1:c.96C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385272.1:c.96C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385273.1:c.96C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385274.1:c.96C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_174964.1:n.556G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003595640Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 7, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003595640.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.96C>A (p.H32Q) alteration is located in exon 2 (coding exon 1) of the ANG gene. This alteration results from a C to A substitution at nucleotide position 96, causing the histidine (H) at amino acid position 32 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 1, 2024