NM_001349338.3(FOXP1):c.*1669dup AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 1, 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:: RCV003221945.13

Allele description [Variation Report for NM_001349338.3(FOXP1):c.*1669dup]

NM_001349338.3(FOXP1):c.*1669dup

Gene:

FOXP1:forkhead box P1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3p13

Genomic location:

Preferred name:

NM_001349338.3(FOXP1):c.*1669dup

HGVS:

NC_000003.12:g.70957585dup
NG_028243.1:g.631412dup
NM_001244808.3:c.*1669dup
NM_001244810.2:c.*1669dup
NM_001244812.3:c.*1669dup
NM_001244813.3:c.*1669dup
NM_001244814.3:c.*1669dup
NM_001244815.2:c.*1669dup
NM_001244816.2:c.*1669dup
NM_001349337.2:c.*1669dup
NM_001349338.3:c.*1669dupMANE SELECT
NM_001349340.3:c.*1669dup
NM_001349341.3:c.*1669dup
NM_001349342.3:c.*1669dup
NM_001349343.3:c.*1669dup
NM_001349344.3:c.*1669dup
NM_001370548.1:c.*1669dup
NM_032682.6:c.*1669dup
NC_000003.11:g.71006736dup
NM_032682.5:c.*1669dupT
NR_146142.3:n.4219dup
NR_146143.3:n.4216dup

Links:

dbSNP: rs886058842

NCBI 1000 Genomes Browser:

rs886058842

Molecular consequence:

NM_001244808.3:c.*1669dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001244810.2:c.*1669dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001244812.3:c.*1669dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001244813.3:c.*1669dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001244814.3:c.*1669dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001244815.2:c.*1669dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001244816.2:c.*1669dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001349337.2:c.*1669dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001349338.3:c.*1669dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001349340.3:c.*1669dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001349341.3:c.*1669dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001349342.3:c.*1669dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001349343.3:c.*1669dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001349344.3:c.*1669dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370548.1:c.*1669dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_032682.6:c.*1669dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NR_146142.3:n.4219dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146143.3:n.4216dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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sodium- and chloride-dependent creatine transporter 1 isoform 1 [Homo sapiens]
sodium- and chloride-dependent creatine transporter 1 isoform 1 [Homo sapiens]
gi|5032097|ref|NP_005620.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003916829	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jan 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003916829

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Jan 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV003916829.13

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

Description

FOXP1: BS1

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

Last Updated: Oct 20, 2024

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