VCV003392659.1 - ClinVar

NM_001326342.2(CELF2):c.1275del (p.Ala426fs)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(1)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Uncertain significance

criteria provided, single submitter

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_001326342.2(CELF2):c.1275del (p.Ala426fs)

Variation ID: 3392659 Accession: VCV003392659.1

Type and length

Deletion, 1 bp

Location

Cytogenetic: 10p14 10: 11321367 (GRCh38) [ NCBI UCSC ] 10: 11363330 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Jan 4, 2025	Jan 4, 2025	Jun 18, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_001326342.2:c.1275del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_001313271.1:p.Ala426fs	frameshift
NM_001025076.2:c.1182del	NP_001020247.1:p.Ala395fs	frameshift
NM_001025077.3:c.1236del	NP_001020248.1:p.Ala413fs	frameshift
NM_001083591.1:c.1176del	NP_001077060.1:p.Ala393fs	frameshift
NM_001326317.2:c.1164del	NP_001313246.1:p.Ala389fs	frameshift
NM_001326318.2:c.1182del	NP_001313247.1:p.Ala395fs	frameshift
NM_001326319.2:c.1236del	NP_001313248.1:p.Ala413fs	frameshift
NM_001326320.2:c.1182del	NP_001313249.1:p.Ala395fs	frameshift
NM_001326321.2:c.1206del	NP_001313250.1:p.Ala403fs	frameshift
NM_001326323.2:c.1224del	NP_001313252.1:p.Ala409fs	frameshift
NM_001326324.2:c.1182del	NP_001313253.1:p.Ala395fs	frameshift
NM_001326325.2:c.1329del	NP_001313254.1:p.Ala444fs	frameshift
NM_001326326.2:c.1272del	NP_001313255.1:p.Ala425fs	frameshift
NM_001326327.2:c.1290del	NP_001313256.1:p.Ala431fs	frameshift
NM_001326328.2:c.1182del	NP_001313257.1:p.Ala395fs	frameshift
NM_001326329.2:c.1164del	NP_001313258.1:p.Ala389fs	frameshift
NM_001326330.2:c.1182del	NP_001313259.1:p.Ala395fs	frameshift
NM_001326331.2:c.1254del	NP_001313260.1:p.Ala419fs	frameshift
NM_001326332.2:c.1236del	NP_001313261.1:p.Ala413fs	frameshift
NM_001326333.2:c.570del	NP_001313262.1:p.Ala191fs	frameshift
NM_001326334.2:c.1182del	NP_001313263.1:p.Ala395fs	frameshift
NM_001326335.2:c.1248del	NP_001313264.1:p.Ala417fs	frameshift
NM_001326336.2:c.1308del	NP_001313265.1:p.Ala437fs	frameshift
NM_001326337.2:c.1088-4469del		intron variant
NM_001326338.2:c.903del	NP_001313267.1:p.Ala302fs	frameshift
NM_001326339.2:c.921del	NP_001313268.1:p.Ala308fs	frameshift
NM_001326340.2:c.1311del	NP_001313269.1:p.Ala438fs	frameshift
NM_001326341.2:c.1257del	NP_001313270.1:p.Ala420fs	frameshift
NM_001326343.2:c.1329del	NP_001313272.1:p.Ala444fs	frameshift
NM_001326344.2:c.1164del	NP_001313273.1:p.Ala389fs	frameshift
NM_001326345.2:c.1182del	NP_001313274.1:p.Ala395fs	frameshift
NM_001326346.2:c.552del	NP_001313275.1:p.Ala185fs	frameshift
NM_001326347.1:c.1200del	NP_001313276.1:p.Ala401fs	frameshift
NM_001326348.2:c.1164del	NP_001313277.1:p.Ala389fs	frameshift
NM_001326349.2:c.1182del	NP_001313278.1:p.Ala395fs	frameshift
NM_001394502.1:c.1254del	NP_001381431.1:p.Ala419fs	frameshift
NM_001394513.1:c.1257del	NP_001381442.1:p.Ala420fs	frameshift
NM_001394517.1:c.1164del	NP_001381446.1:p.Ala389fs	frameshift
NM_001394518.1:c.1269del	NP_001381447.1:p.Ala424fs	frameshift
NM_001394519.1:c.1269del	NP_001381448.1:p.Ala424fs	frameshift
NM_006561.4:c.1275del	NP_006552.3:p.Ala426fs	frameshift
NC_000010.11:g.11321367del
NC_000010.10:g.11363330del

... more HGVS ... less HGVS

Protein change

A185fs, A191fs, A302fs, A308fs, A389fs, A393fs, A395fs, A401fs, A403fs, A409fs, A413fs, A417fs, A419fs, A420fs, A424fs, A425fs, A426fs, A431fs, A437fs, A438fs, A444fs

Other names

Canonical SPDI

NC_000010.11:11321366:T:

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
CELF2		-	-	GRCh38 GRCh37	44	100
CELF2-AS1	-	-	-	GRCh38	-	32

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
not provided	Uncertain significance (1)	criteria provided, single submitter	Jun 18, 2024	RCV004820451.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Uncertain significance (Jun 18, 2024)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV005440995.1 First in ClinVar: Jan 04, 2025 Last updated: Jan 04, 2025	Comment: Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in abnormal protein length as the last 96 amino acids … (more) Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in abnormal protein length as the last 96 amino acids are replaced with 49 different amino acids; Has not been previously published as pathogenic or benign to our knowledge (less)

Comment:

Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in abnormal protein length as the last 96 amino acids are replaced with 49 different amino acids; Has not been previously published as pathogenic or benign to our knowledge

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Comment:

Citations for germline classification of this variant

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for this variant ...

Record last updated Jan 04, 2025

ClinVar Genomic variation as it relates to human health

NM_001326342.2(CELF2):c.1275del (p.Ala426fs)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...