NM_015338.6(ASXL1):c.3972_3973delinsCT (p.Leu1325Phe) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 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:: RCV001990002.5

Allele description [Variation Report for NM_015338.6(ASXL1):c.3972_3973delinsCT (p.Leu1325Phe)]

NM_015338.6(ASXL1):c.3972_3973delinsCT (p.Leu1325Phe)

Gene:

ASXL1:ASXL transcriptional regulator 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

20q11.21

Genomic location:

Preferred name:

NM_015338.6(ASXL1):c.3972_3973delinsCT (p.Leu1325Phe)

HGVS:

NC_000020.11:g.32436684_32436685delinsCT
NG_027868.1:g.83341_83342delinsCT
NM_001363734.1:c.3789_3790delinsCT
NM_015338.6:c.3972_3973delinsCTMANE SELECT
NP_001350663.1:p.Leu1264Phe
NP_056153.2:p.Leu1325Phe
LRG_630:g.83341_83342delinsCT
NC_000020.10:g.31024487_31024488delinsCT

Protein change:

L1264F

Links:

dbSNP: rs2145390641

NCBI 1000 Genomes Browser:

rs2145390641

Molecular consequence:

NM_001363734.1:c.3789_3790delinsCT - missense variant - [Sequence Ontology: SO:0001583]
NM_015338.6:c.3972_3973delinsCT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002228593	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 6, 2021)	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

SCV002228593

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 6, 2021)

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, SCV002228593.2

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

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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with ASXL1-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This sequence change replaces leucine with phenylalanine at codon 1325 of the ASXL1 protein (p.Leu1325Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine.

#	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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