NM_194277.3(FRMD7):c.285-12A>G AND Nystagmus 1, congenital, X-linked

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 25, 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:: RCV001779356.1

Allele description [Variation Report for NM_194277.3(FRMD7):c.285-12A>G]

NM_194277.3(FRMD7):c.285-12A>G

Gene:

FRMD7:FERM domain containing 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq26.2

Genomic location:

Preferred name:

NM_194277.3(FRMD7):c.285-12A>G

HGVS:

NC_000023.11:g.132094151T>C
NG_012347.1:g.38872A>G
NM_001306193.2:c.240-12A>G
NM_194277.3:c.285-12A>GMANE SELECT
LRG_867t1:c.285-12A>G
LRG_867:g.38872A>G
NC_000023.10:g.131228179T>C
NM_194277.2:c.285-12A>G

Links:

dbSNP: rs1486391487

NCBI 1000 Genomes Browser:

rs1486391487

Molecular consequence:

NM_001306193.2:c.240-12A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_194277.3:c.285-12A>G - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Nystagmus 1, congenital, X-linked
Synonyms:: NYSTAGMUS 1, INFANTILE, X-LINKED; NYSTAGMUS, INFANTILE IDIOPATHIC; Infantile nystagmus, X-linked; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010693; MedGen: C1839580; OMIM: 310700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002014692	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 25, 2021)	maternal	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

SCV002014692

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 25, 2021)

maternal

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	maternal	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From 3billion, SCV002014692.1

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

Description

This variant is not observed in the gnomAD v2.1.1 dataset (PM2). In silico tools predict the variant to alter splicing and produce an abnormal transcript (Splice AI: 0.55, dbscSNV ADA: 0.86, RF:0.6, PP3). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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

Last Updated: Dec 24, 2023

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