NM_001097577.3(ANG):c.253A>C (p.Asn85His) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 6, 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:: RCV002782589.2

Allele description [Variation Report for NM_001097577.3(ANG):c.253A>C (p.Asn85His)]

NM_001097577.3(ANG):c.253A>C (p.Asn85His)

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.253A>C (p.Asn85His)

HGVS:

NC_000014.9:g.20693817A>C
NG_008717.2:g.14641A>C
NG_033053.1:g.14605A>C
NM_001097577.3:c.253A>CMANE SELECT
NM_001145.4:c.253A>C
NM_001282192.2:c.-18+167A>C
NM_001282193.2:c.-17-5538A>C
NM_001385271.1:c.253A>C
NM_001385272.1:c.253A>C
NM_001385273.1:c.253A>C
NM_001385274.1:c.253A>C
NM_002937.5:c.-17-5538A>CMANE SELECT
NM_194431.3:c.-18+4943A>C
NP_001091046.1:p.Asn85His
NP_001136.1:p.Asn85His
NP_001372200.1:p.Asn85His
NP_001372201.1:p.Asn85His
NP_001372202.1:p.Asn85His
NP_001372203.1:p.Asn85His
LRG_653t1:c.253A>C
LRG_653:g.14641A>C
LRG_653p1:p.Asn85His
NC_000014.8:g.21161976A>C

Protein change:

N85H

Molecular consequence:

NM_001282192.2:c.-18+167A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001282193.2:c.-17-5538A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_002937.5:c.-17-5538A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_194431.3:c.-18+4943A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001097577.3:c.253A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001145.4:c.253A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001385271.1:c.253A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001385272.1:c.253A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001385273.1:c.253A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001385274.1:c.253A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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Rattus norvegicus fibronectin type III domain containing 8 (Fndc8), mRNA
Rattus norvegicus fibronectin type III domain containing 8 (Fndc8), mRNA
gi|157823238|ref|NM_001107030.1|

Nucleotide
zinc finger protein ZIC 2 [Mus musculus]
zinc finger protein ZIC 2 [Mus musculus]
gi|112734853|ref|NP_033600.3|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003577114	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 6, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003577114

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 6, 2021)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003577114.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.253A>C (p.N85H) alteration is located in exon 2 (coding exon 1) of the ANG gene. This alteration results from a A to C substitution at nucleotide position 253, causing the asparagine (N) at amino acid position 85 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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