NM_001097577.3(ANG):c.38_43dup (p.Leu14_Gly15insValLeu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 17, 2023
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:: RCV002624611.3

Allele description [Variation Report for NM_001097577.3(ANG):c.38_43dup (p.Leu14_Gly15insValLeu)]

NM_001097577.3(ANG):c.38_43dup (p.Leu14_Gly15insValLeu)

Genes:

EGILA:EGFR interacting lncRNA [Gene - HGNC]
ANG:angiogenin [Gene - OMIM - HGNC]
RNASE4:ribonuclease A family member 4 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_001097577.3(ANG):c.38_43dup (p.Leu14_Gly15insValLeu)

HGVS:

NC_000014.9:g.20693602_20693607dup
NG_008717.2:g.14426_14431dup
NG_033053.1:g.14390_14395dup
NM_001097577.3:c.38_43dupMANE SELECT
NM_001145.4:c.38_43dup
NM_001282192.2:c.-66_-61dup
NM_001282193.2:c.-17-5753_-17-5748dup
NM_001385271.1:c.38_43dup
NM_001385272.1:c.38_43dup
NM_001385273.1:c.38_43dup
NM_001385274.1:c.38_43dup
NM_002937.5:c.-17-5753_-17-5748dupMANE SELECT
NM_194431.3:c.-18+4728_-18+4733dup
NP_001091046.1:p.Leu14_Gly15insValLeu
NP_001136.1:p.Leu14_Gly15insValLeu
NP_001372200.1:p.Leu14_Gly15insValLeu
NP_001372201.1:p.Leu14_Gly15insValLeu
NP_001372202.1:p.Leu14_Gly15insValLeu
NP_001372203.1:p.Leu14_Gly15insValLeu
LRG_653t1:c.38_43dup
LRG_653:g.14426_14431dup
LRG_653p1:p.Leu14_Gly15insValLeu
NC_000014.8:g.21161759_21161760insGTGCTG
NC_000014.8:g.21161761_21161766dup
NR_174964.1:n.610_615dup

Molecular consequence:

NM_001282192.2:c.-66_-61dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001097577.3:c.38_43dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001145.4:c.38_43dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001385271.1:c.38_43dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001385272.1:c.38_43dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001385273.1:c.38_43dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001385274.1:c.38_43dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001282193.2:c.-17-5753_-17-5748dup - intron variant - [Sequence Ontology: SO:0001627]
NM_002937.5:c.-17-5753_-17-5748dup - intron variant - [Sequence Ontology: SO:0001627]
NM_194431.3:c.-18+4728_-18+4733dup - intron variant - [Sequence Ontology: SO:0001627]
NR_174964.1:n.610_615dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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cm19d05.w1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA ...
cm19d05.w1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA clone PBX0118D05 5', mRNA sequence
gi|7399798|gnl|dbEST|4079021|gb|AW6 .1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003516958	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 17, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003516958

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 17, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

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

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003516958.2

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

Description

This variant, c.38_43dup, results in the insertion of 2 amino acid(s) of the ANG protein (p.Val13_Leu14dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs745961752, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ANG-related conditions. ClinVar contains an entry for this variant (Variation ID: 2197000). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

#	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 29, 2024

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