NM_003480.4(MFAP5):c.415C>T (p.Leu139Phe) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 26, 2024
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:: RCV003718498.1

Allele description

NM_003480.4(MFAP5):c.415C>T (p.Leu139Phe)

Genes:

LOC126861443:BRD4-independent group 4 enhancer GRCh37_chr12:8800473-8801672 [Gene]
MFAP5:microfibril associated protein 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

Preferred name:

NM_003480.4(MFAP5):c.415C>T (p.Leu139Phe)

HGVS:

NC_000012.12:g.8648198G>A
NG_041814.1:g.19691C>T
NG_085942.1:g.422G>A
NM_001297709.2:c.385C>T
NM_001297710.2:c.349C>T
NM_001297711.2:c.340C>T
NM_001297712.2:c.223C>T
NM_003480.4:c.415C>TMANE SELECT
NP_001284638.1:p.Leu129Phe
NP_001284639.1:p.Leu117Phe
NP_001284640.1:p.Leu114Phe
NP_001284641.1:p.Leu75Phe
NP_003471.1:p.Leu139Phe
NC_000012.11:g.8800794G>A
NM_003480.2:c.415C>T
NR_123733.2:n.686C>T
NR_123734.2:n.656C>T

Protein change:

L114F

Molecular consequence:

NM_001297709.2:c.385C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001297710.2:c.349C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001297711.2:c.340C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001297712.2:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003480.4:c.415C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_123733.2:n.686C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_123734.2:n.656C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004519677	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 26, 2024)	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

SCV004519677

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 26, 2024)

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 Invitae, SCV004519677.1

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

Description

This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 139 of the MFAP5 protein (p.Leu139Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MFAP5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1738328). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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: May 1, 2024

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